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  2. bpspubs.onlinelibrary.wiley.com bpspubs.onlinelibrary.wiley.com
    BPS Publications
    27
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    bpspubs.onlinelibrary.wiley.com/doi/10.1111/bph.70722
  3. bpspubs.onlinelibrary.wiley.com bpspubs.onlinelibrary.wiley.com
    BPS Publications
    1
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    bpspubs.onlinelibrary.wiley.com/doi/10.1111/bph.70720
  4. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Direct Pharmacological Activation of AMPK Extends Lifespan in Yeast, Worms and Flies
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC13623501/
  5. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Anesthesia unconsciousness recruits dynamic parabrachial activity within a distributed brain-wide ensemble
    19
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    pmc.ncbi.nlm.nih.gov/articles/PMC13596143/
  6. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Activation of Pol theta-mediated end joining begins during mitotic commitment
    2
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    pmc.ncbi.nlm.nih.gov/articles/PMC13596132/
  7. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Dominant ACO2 mutations are a frequent cause of isolated optic atrophy
    2
    1. ClingenBaseline 06 Nov 2026
      dentification of ACO2 variants in individuals with ION Cohorts including about 1000 molecularly undiagnosed ION individuals from France, Germany, Italy, Spain, Belgium and the UK were screened by targeted sequencing for the presence of ACO2 variants. Among individuals with a single ACO2 variant, we selected cases with an MAF lower than 0.0001, whereas in individuals with biallelic heterozygous composite or homozygous variants, we selected the cases with an MAF lower than 0.005 for each variant. This led to the identification of 50 individuals harbouring 1 of 43 different heterozygous mutations, among which 29 were novel, as well as 11 individuals with biallelic mutations, among which 8 were novel. A compilation of these variants and the associated amino acid changes are displayed on ACO2 primary sequence and 3D structure in Fig. 1A and C and listed in the Supplementary Table 1. Notably, four dominant variants p.(Arg474Gly), p.(Trp603Ser), p.(Ser669Leu) and p.(Arg671Trp) were identified in two unrelated individuals and p.(Arg671Gln) in four unrelated individuals, while one recessive variant, p.(Leu74Val), with an MAF value of 0.00369, was found in five unrelated ROA individuals, and also formerly described in eight individuals with syndromic ACO2 presentations. This p.(Leu74Val) variant was associated once with p.(Gly661Arg) in the P56 individual, a combination already reported in an ROA family.6 Segregation analysis was performed where available. In DOA cases, all affected relatives carried the variant, whereas some relatives in the families of patients P6, P8, P9, P13 and P33 carrying the variant were asymptomatic, as occasionally observed in families with OPA1 mutations.15,41 Moreover, segregation analysis revealed de novo mutations in the P15 and P18 index cases. Analysis of the types of mutations identified in ACO2 (Fig. 1B) revealed that two-third of all variants were missense mutations, irrespective of the dominant or recessive mode of inheritance, while nonsense, frame-shift, splice-site mutations and deletions accounted together for the third part of all mutations identified, without significant difference between the distribution of the mutation types between dominant and recessive cases (P-value: 0.80). Notably, the identification of null alleles in dominant cases suggests that ACO2 haploinsufficiency contributes mainly to DOA pathophysiology.

      Case: Charif Patient #60, 7yo at report, 6yo at dx, male, European

      CasePresentingHPOs:

      CasePresentingHPOsFreeText: inherited optic neuropathy/dominant optic atrophy; BCVA= OD:0.25, OS:0.08; central scotoma; ODS: temporal atrophy

      CaseNOTHPOs:

      CaseNOTHPOSFreeText: other symptoms

      CasePreviousTesting:

      CaseGenotypingMethod: ACO2 mutations were screened using resequencing gene panels dedicated to the molecular diagnosis of IONs or of mitochondrial inherited diseases. All candidate pathogenic variants were validated by Sanger sequencing

      Variant: NM_001098.2 c.525+1G>A; c.220C>G p.(Leu74Val) compound heterozygous

      ClinVarID: or CAID: 1470169

      AddCaseInfo: no segregation data

      PreviouslyPublished: n/a

      VariantEvidence: n/a

      Individual CaseInfo ClinVarID:1470169 SupplementalTable inferred_gene_hgnc:118 inferred_gene_source:ClinVar UNC Biocuration Core
    2. ClingenBaseline 06 Nov 2026
      Identification of ACO2 variants in individuals with ION Cohorts including about 1000 molecularly undiagnosed ION individuals from France, Germany, Italy, Spain, Belgium and the UK were screened by targeted sequencing for the presence of ACO2 variants. Among individuals with a single ACO2 variant, we selected cases with an MAF lower than 0.0001, whereas in individuals with biallelic heterozygous composite or homozygous variants, we selected the cases with an MAF lower than 0.005 for each variant. This led to the identification of 50 individuals harbouring 1 of 43 different heterozygous mutations, among which 29 were novel, as well as 11 individuals with biallelic mutations, among which 8 were novel. A compilation of these variants and the associated amino acid changes are displayed on ACO2 primary sequence and 3D structure in Fig. 1A and C and listed in the Supplementary Table 1. Notably, four dominant variants p.(Arg474Gly), p.(Trp603Ser), p.(Ser669Leu) and p.(Arg671Trp) were identified in two unrelated individuals and p.(Arg671Gln) in four unrelated individuals, while one recessive variant, p.(Leu74Val), with an MAF value of 0.00369, was found in five unrelated ROA individuals, and also formerly described in eight individuals with syndromic ACO2 presentations. This p.(Leu74Val) variant was associated once with p.(Gly661Arg) in the P56 individual, a combination already reported in an ROA family.6 Segregation analysis was performed where available. In DOA cases, all affected relatives carried the variant, whereas some relatives in the families of patients P6, P8, P9, P13 and P33 carrying the variant were asymptomatic, as occasionally observed in families with OPA1 mutations.15,41 Moreover, segregation analysis revealed de novo mutations in the P15 and P18 index cases. Analysis of the types of mutations identified in ACO2 (Fig. 1B) revealed that two-third of all variants were missense mutations, irrespective of the dominant or recessive mode of inheritance, while nonsense, frame-shift, splice-site mutations and deletions accounted together for the third part of all mutations identified, without significant difference between the distribution of the mutation types between dominant and recessive cases (P-value: 0.80). Notably, the identification of null alleles in dominant cases suggests that ACO2 haploinsufficiency contributes mainly to DOA pathophysiology.

      Case: Charif Patient #1, 25yo at report, female, European

      CasePresentingHPOs:

      CasePresentingHPOsFreeText: inherited optic neuropathy/dominant optic atrophy; BCVA= OD:0.5, OS:0.63; ODS: diffuse loss;

      CaseNOTHPOs:

      CaseNOTHPOSFreeText: other symptoms

      CasePreviousTesting:

      CaseGenotypingMethod: ACO2 mutations were screened using resequencing gene panels dedicated to the molecular diagnosis of IONs or of mitochondrial inherited diseases. All candidate pathogenic variants were validated by Sanger sequencing

      Variant: NM_001098.2 c.172C>T p.(Arg58*) heterozygous

      ClinVarID: or CAID: 441075

      AddCaseInfo: no segregation data

      PreviouslyPublished: n/a

      VariantEvidence: n/a

      SupplementalTable CaseInfo Individual ClinVarID:441075 inferred_gene_hgnc:118 inferred_gene_source:ClinVar UNC Biocuration Core
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    pmc.ncbi.nlm.nih.gov/articles/PMC8152918/
  8. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Finding the candidate sequence variants for diagnosis of hypertrophic cardiomyopathy in East Slovak patients
    1
    1. ClingenBaseline 06 Nov 2026
      KMP 15

      Case#: KMP 15, female, 82 yrs, East Slovakia

      DiseaseAssertion: HCM

      FamilyInfo: yes

      CasePresentingHPOs: n/a

      CaseHPOFreeText: symptomatic, LVOTO yes; LVEF 60%; NYHA III.; ICD yes; ECG; echocardiography;

      CaseNotHPOs: n/a

      CaseNotHPOFreeText: n/a

      CasePreviousTesting: Additional Sanger sequencing of exons 12, 24, 25 of MYBPC3, exon 12 NEBL, exons 12, 20, 21 of SCN5A, exon 7 of TNNI3, and exon 9 of TNNT2 gene

      CaseGenotypingMethod: Sanger sequencing;

      Variant: NM_000257.4(MYH7):c.2734A>G (p.Lys912Glu)

      ClinVar: 520267 https://www.ncbi.nlm.nih.gov/clinvar/variation/520267/

      CAID: n/a

      gnomAD: absent

      Individual CaseInfo inheritancePattern:NoInheritanceAssertion DiseaseEntity:HCM Mutation:Somatic FamilyInfo PreviousTesting:Partial ClinVarID:520267 inferred_gene_hgnc:7577 inferred_gene_source:ClinVar UNC Biocuration Core
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    pmc.ncbi.nlm.nih.gov/articles/PMC6817085/
  9. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Higher Bone Mineral Density in Obesity Masks Impaired Bone Remodeling and Disproportionate Musculoskeletal Adaptation in Young Women
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC13712545/
  10. faseb.onlinelibrary.wiley.com faseb.onlinelibrary.wiley.com
    Progestogens Modulate the Metabolic but Not the Musculoskeletal Response to Estradiol in a Mouse Model of Adolescent Gender Transition
    2
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    faseb.onlinelibrary.wiley.com/doi/10.1096/fj.202602013R
  11. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    The Infrastructure Behind the Experiment: Rethinking Research Supply as a Shared Scientific Resource
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC13702830/
  12. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    The Evaluation of Tools Used to Predict the Impact of Missense Variants Is Hindered by Two Types of Circularity
    2
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    ncbi.nlm.nih.gov/pmc/articles/PMC4409520/
  13. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    JAG1 c.1615C > T mutation impairs bile duct regeneration but not differentiation in hepatic organoids derived from a patient with Alagille syndrome
    2
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    pmc.ncbi.nlm.nih.gov/articles/PMC13593616/
  14. www.ahajournals.org www.ahajournals.org
    Lack of Phenotypic Differences by Cardiovascular Magnetic Resonance Imaging in MYH7 (β-Myosin Heavy Chain)- Versus MYBPC3 (Myosin-Binding Protein C)-Related Hypertrophic Cardiomyopathy | Circulation: Cardiovascular Imaging
    3
    1. ClingenBaseline 06 Nov 2026

      Case#: Consequence 7 Table 1 in Data Supplement (1 cases)

      DiseaseAssertion: HCM

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Cardiac magnetic resonance imaging, BSA, NYHA functional class, obstructive HCM, atrial fibrillation, coronary artery disease, NSVT, Syncope, SCD family hitory, wall thickness

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: Additional oligonucleotide hybridization–based DNA sequencing and dideoxy-based DNA sequencing for MYBPC3, TMP1, TNNC1, TNNI2, TNNI3, TNNT2, ACTC1, MYL3

      CaseGenotypingMethod: oligonucleotide hybridization–based DNA sequencing and dideoxy-based DNA sequencing

      Variant: NM_000257.4(MYH7):c.1608G>T (p.Glu536Asp)

      ClinVar: 177671 https://www.ncbi.nlm.nih.gov/clinvar/variation/177671/

      CAID: n/a

      gnomAD: absent

      Individual CaseInfo InheritancePattern:AutosomalDominant DiseaseEntity:HCM PreviousTesting:Additional SupplementalData ClinVarID:177671 Mutation:Germline PreviousTesting:Full inferred_gene_hgnc:7577 inferred_gene_source:ClinVar UNC Biocuration Core
    2. ClingenBaseline 06 Nov 2026

      Case#: Consequence 16 Table 1 in Data Supplement (1 cases)

      DiseaseAssertion: HCM

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Cardiac magnetic resonance imaging, BSA, NYHA functional class, obstructive HCM, atrial fibrillation, coronary artery disease, NSVT, Syncope, SCD family hitory, wall thickness

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: Additional oligonucleotide hybridization–based DNA sequencing and dideoxy-based DNA sequencing for MYBPC3, TMP1, TNNC1, TNNI2, TNNI3, TNNT2, ACTC1, MYL3

      CaseGenotypingMethod: oligonucleotide hybridization–based DNA sequencing and dideoxy-based DNA sequencing

      Variant: NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln)

      ClinVar: 36642 https://www.ncbi.nlm.nih.gov/clinvar/variation/36642/

      CAID: n/a

      gnomAD: 0.00004657 European (non-Finnish) https://gnomad.broadinstitute.org/variant/14-23884860-C-T

      CaseInfo Individual InheritancePattern:AutosomalDominant DiseaseEntity:HCM PreviousTesting:Additional SupplementalData ClinVarID:36642 PreviousTesting:Full Mutation:Germline inferred_gene_hgnc:7577 inferred_gene_source:RefSeq UNC Biocuration Core
    3. ClingenBaseline 06 Nov 2026

      Case#: Consequence 5 Table 1 in Data Supplement (1 cases)

      DiseaseAssertion: HCM

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Cardiac magnetic resonance imaging, BSA, NYHA functional class, obstructive HCM, atrial fibrillation, coronary artery disease, NSVT, Syncope, SCD family hitory, wall thickness

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: Additional oligonucleotide hybridization–based DNA sequencing and dideoxy-based DNA sequencing for MYBPC3, TMP1, TNNC1, TNNI2, TNNI3, TNNT2, ACTC1, MYL3

      CaseGenotypingMethod: oligonucleotide hybridization–based DNA sequencing and dideoxy-based DNA sequencing

      Variant: NM_000257.4(MYH7):c.2198G>T (p.Gly733Val)

      ClinVar: 181177 https://www.ncbi.nlm.nih.gov/clinvar/variation/181177/

      CAID: n/a

      gnomAD: absent

      Individual CaseInfo InheritancePattern:AutosomalDominant DiseaseEntity:HCM Mutation:Somatic PreviousTesting:Partial PreviousTesting:Additional SupplementalData ClinVarID:181177 PreviousTesting:Full Mutation:Germline inferred_gene_hgnc:7577 inferred_gene_source:ClinVar UNC Biocuration Core
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    ahajournals.org/doi/full/10.1161/CIRCIMAGING.116.005311
  15. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Live-cell DNMT3A “catalysome” mapping using engineered methyl-transfer pathways
    2
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    pmc.ncbi.nlm.nih.gov/articles/PMC13594970/
  16. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    MeCP2 MBD-ID module: a unified DNA/RNA binding interface disrupted in Rett syndrome
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC13594976/
  17. dx.doi.org dx.doi.org
    Genomic prediction enables selection for improved fruit ripening traits in northern highbush blueberry (Vaccinium corymbosum L.) breeding populations
    1
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    dx.doi.org/10.1093/g3journal/jkag271
  18. dx.doi.org dx.doi.org
    Synchrotron X-ray microtomography reveals the first fossil species of the “Cryptoramorphini” group (Coleoptera: Ptinidae: Dorcatominae) from the lowermost Eocene Oise amber of France
    1
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    dx.doi.org/10.1093/aesa/saag043
  19. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Case Report: Infantile Cerebellar-Retinal Degeneration With Compound Heterozygous Variants in ACO2 Gene-Long-Term Follow-Up of a Sibling
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC8965713/
  20. www.pnas.org www.pnas.org
    Intraventricular clindamycin enhances interstitial brain fluid drainage and the blood–brain barrier after a traumatic brain injury
    1
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    pnas.org/doi/abs/10.1073/pnas.2536755123
  21. www.pnas.org www.pnas.org
    Functional redundancy between atypical CDKs reveals a vulnerability in hepatocellular carcinoma
    1
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    pnas.org/doi/abs/10.1073/pnas.2529474123
  22. dx.doi.org dx.doi.org
    Hydrogenolysis triggered formation of zero-valent metals and metal selenides at room temperature from divalent metal aminoxide complexes facilitated by metal-ligand cooperativity
    1
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    dx.doi.org/10.1039/d6sc07403k
  23. www.nature.com www.nature.com
    ELKIN1-dependent Ca++ flickers in melanoma cells depend on acto-myosin contractility
    3
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    nature.com/articles/s44341-026-00051-9
  24. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Identification of novel compound heterozygous mutations in ACO2 in a patient with progressive cerebral and cerebellar atrophy
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC6625133/
  25. link.springer.com link.springer.com
    Hypoxic preconditioning promotes recipient monocyte adaptation to improve heart transplant outcomes
    16
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    link.springer.com/article/10.1038/s44321-026-00543-0
  26. www-sciencedirect-com.libproxy.lib.unc.edu www-sciencedirect-com.libproxy.lib.unc.edu
    Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients
    1
    1. ClingenBaseline 06 Nov 2026
      Q380RR628PA8, A20, L14Mild, survival beyond age 35, no mental retardation

      Case#: Patient #17, Brazilian

      DiseaseAssertion: MPS1, mild

      FamilyInfo:

      CasePresentingHPOs:

      CaseHPOFreeText: survival beyond age 35

      CaseNotHPOs:

      CaseNotHPOFreeText: mental retardation

      GenotypingMethod:

      PreviouslyPublished:

      Variant: Q380R; R628P (also A8, A20, L14)

      ClinVar: 1064675

      CAID:

      SupplementalData:

      CaseInfo Individual ClinVarID: 1064675 inferred_gene_hgnc:5391 inferred_gene_source:ClinVar UNC Biocuration Core
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    www-sciencedirect-com.libproxy.lib.unc.edu/science/article/pii/S1096719202002007
  27. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC5413020/
  28. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing
    1
    1. ClingenBaseline 06 Nov 2026
      The institutional review board of the University of Michigan (IRBMED) approved this retrospective study. Patients who were referred to the Michigan Medicine Pediatric Genetics clinic for any reason and who underwent CES as part of their diagnostic workup were consecutively included in this study. Clinical evaluations of patients were performed in the comprehensive Pediatrics Genetics Clinic, and included detailed evaluation of each individual and construction of a pedigree. Patients were clinically assessed by a physician (medical geneticist) who reviewed prior history and medical workup, performed a patient interview and physical exam, and ordered diagnostic testing. Patients selected for this cohort included all consecutive patients in whom CES was deemed clinically indicated by the assessing physician who presented for evaluation during from October 1, 2012 through April 30, 2018. Based on physician clinical evaluation and reviews of prior workup and diagnostic testing, a binary yes/no phenotype dataset was curated for all patients across all body systems and other developmental / neurodevelopmental categories. This phenotyping was performed by the Medical Geneticist and then entered into the phenotype database. This was done upon the patient’s initial presentation to clinic before results from genetic testing had returned. The database was created in Excel format, and data were entered by genetic counsellors after the patient had been evaluated in clinic. The database was subsequently updated with results of genetic testing when available. The clinical system phenotypes assessed for abnormalities were: ear/nose/throat (Oto), ophthalmologic, neuromuscular, cardiac, pulmonary, gastrointestinal, renal, skeletal/connective tissue/vascular, skin/hair/teeth, endocrine, hematologic/immunologic (hem/imm), disorders of sexual development (DSD)/ambiguous genitalia, metabolic/inborn errors of metabolism (IEM). A number of other non-body system categories were also assessed in a similar binary way: multiple congenital anomalies (MCA), dysmorphic features, cancer, developmental delay, autism spectrum disorder or autism-like features, and any other behavioral phenotype not otherwise specified. In addition to these binary-curated features, all patients had a descriptive phenotypic summary, as well as demographic information (age, sex) and collation of any prior genetic/molecular testing including karyotype, CMA, or other single gene or panel based molecular testing. Each clinical phenotype was assigned its corresponding Human Phenotype Ontology (HPO) term (Supplementary Table 2). All patients included in this study underwent CES as part of their clinical workup, based on physician clinical decision making. All patients were also required to have a separate genetic counselling appointment for pre-test counselling performed by a certified genetic counselor. Clinical exome sequencing was performed in a ‘send-out’ manner, with 424 to GeneDx, 96 to Ambry, 2 to UCLA, and one to Fulgent. Clinical CES results were reported using the ACMG classification scheme; however, for research purposes, we modified reporting for analysis here by collapsing pathogenic and likely pathogenic variants into the same category (pathogenic variants). We have also included genes of uncertain significance (GUS)—i.e. genes whose biologic function is not known or disease association has not been established—as these may be informative for future gene discovery research. Clinical phenotype data were analyzed by comparing summative analysis of the binary phenotypes. Analysis of variance (ANOVA) was used to compare differences between groups, with p-value < 0.05 considered significant.

      Patient 2 in the supplemental info has the same genotype, phenotype, and gender as from PMID: 30689204, so it seems likely that this is the same individual.

      PreviouslyPublished NoEvidence ClinVarID:441075 SupplementalTable inferred_gene_hgnc:118 inferred_gene_source:ClinVar UNC Biocuration Core
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    pmc.ncbi.nlm.nih.gov/articles/PMC7082194/
  29. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    2-deoxy-2-[18]fluoro-D-glucose PET/CT (18FDG PET/CT) may not be a viable biomarker in Pompe disease
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC5845361/
  30. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    ACO2 clinicobiological dataset with extensive phenotype ontology annotation
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC8342444/
  31. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC7382450/
  32. www.nature.com www.nature.com
    Microbiology Galaxy Lab: a community-driven gateway for reproducible and FAIR analysis of microbiological data
    8
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    nature.com/articles/s42003-026-10750-7
  33. www.nature.com www.nature.com
    Drug repurposing via high throughput 3D spheroids screening in rare cancer treatment
    1
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    nature.com/articles/s41598-026-76779-0
  34. www.nature.com www.nature.com
    Efficient and precise large-scale genomic duplication using amplification editing
    1
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    nature.com/articles/s41596-026-01454-7
  35. www.nature.com www.nature.com
    In situ assembly of peptides in living cells
    6
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    nature.com/articles/s41596-026-01433-y
  36. www.nature.com www.nature.com
    EMC chaperone activity is required for cotranslational calcium channel assembly
    1
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    nature.com/articles/s41594-026-01916-2
  37. www.nature.com www.nature.com
    Circuit mechanisms for disentangled representations and generalization in the hippocampus
    1
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    nature.com/articles/s41593-026-02491-x
  38. www.nature.com www.nature.com
    Insights into early-onset colorectal cancer from a single-nucleus RNA-seq atlas of colorectal cancer across the age continuum
    3
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    nature.com/articles/s41591-026-04721-y
  39. www.nature.com www.nature.com
    Rotation of the N-terminal helix triggers Gα activation
    1
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    nature.com/articles/s41589-026-02359-y
  40. www.nature.com www.nature.com
    Diet at disease onset determines tissue inflammatory memory
    1
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    nature.com/articles/s41586-026-11181-4
  41. www.nature.com www.nature.com
    Systemic exposure to typhoid toxin primes the murine vascular endothelium for intestinal perforation during Salmonella Typhi infection
    5
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    nature.com/articles/s41564-026-02521-1
  42. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia
    1
    1. ClingenBaseline 06 Nov 2026
      A p.Ser112Arg missense mutation was first identified in 2 families with infantile cerebellar-retinal degeneration.28 Affected individuals exhibited developmental delay including severe psychomotor retardation, with an age at onset between 2 and 6 months. Brain MRI revealed cerebellar degeneration and white matter abnormalities (dysmyelination). Optic atrophy and retinal degeneration were readily identifiable in the setting of progressively severe visual impairment. Mitochondrial aconitase enzymatic activity was significantly reduced in lymphoblasts.

      This variant is mentioned only in reference to a previous report.

      PreviouslyPublished NoEvidence ClinVarID:29584 inferred_gene_hgnc:118 inferred_gene_source:ClinVar UNC Biocuration Core
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    pmc.ncbi.nlm.nih.gov/articles/PMC5863690/
  43. www.nature.com www.nature.com
    Motile vesicles (MoVes) are a cancer cell migration-associated extracellular vesicle population
    1
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    nature.com/articles/s41556-026-02097-2
  44. www.nature.com www.nature.com
    Tubulin acetylation regulates nuclear shape fluctuations and DNA repair
    3
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    nature.com/articles/s41556-026-02096-3
  45. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Functional Cellular Analyses Reveal Energy Metabolism Defect and Mitochondrial DNA Depletion in a Case of Mitochondrial Aconitase Deficiency
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    1. ClingenBaseline 06 Nov 2026
      athogenic variants in mitochondrial aconitase were originally described in two families of Middle Eastern descent. The resulting defects in ACO2 activity were associated with a relatively severe clinical course that included optic and cerebellar atrophy associated with hearing loss and severe to profound developmental delay (8). Subsequent to that original report (preceding the results on our patient), Metodiev et al. described an additional five subjects in three families (two consanguineous) from France and Algeria with other ACO2 pathogenic variants (9). In that cohort, although the core symptoms of ataxia, optic nerve involvement and developmental delay were again noted, the severity of the associated symptoms varied widely. Our report therefore serves to further expand the phenotype associated with ACO2 deficiency in a similar manner – our patient falls outside of the ethnic groups so far described, and did not have evidence of cerebellar atrophy on MRI or of significant optic nerve involvement at the time of evaluation. However, the aconitase activity is within the range of previously reported patient’s with infantile cerebellar-retinal degeneration syndrome, and the ACO2 protein activity is similar to at least one other patient (Figure 5).

      This variant is only mentioned in reference to a previous report.

      PreviouslyPublished NoEvidence ClinVarID:29584 inferred_gene_hgnc:118 inferred_gene_source:ClinVar UNC Biocuration Core
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    Dual targeting of ACSS2 and ACLY by a novel inhibitor S8588 suppresses oncogenic lipogenesis and overcomes metabolic compensation in oral squamous cell carcinoma
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    A High-Resolution Mass Spectrometry Workflow for Xenobiotic Metabolite Discovery and Toxicity Prioritization: Disperse Orange 61 as a Case Study
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    dx.doi.org/10.1021/jasms.6c00325
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    Photochemical Cross-Organoboron Coupling of Heteroaryl and Alkyl Boronic Acids and Esters
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    dx.doi.org/10.1021/jacs.6c14729
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    Discovering Underpotentially Deposited Crystalline Sodium Metal Nanoparticles on the Surface of Hard Carbon Anodes
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    dx.doi.org/10.1021/jacs.6c11513
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    Kelch-Like ECH-Associated Protein 1 (Keap1)/Nuclear Factor (Erythroid-Derived 2)-Like 2 (Nrf2)-Targeting Protein-Like Polymers Exhibit Prolonged Circulation Half-Lives and Nrf2 Pathway Activation In Vivo
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    dx.doi.org/10.1021/acsptsci.6c00191
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    Mapping Hindered Mass Transport through Electrogenerated Chitosan Films Using Electrochemiluminescence Microscopy
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    dx.doi.org/10.1021/acs.langmuir.6c04797
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    dx.doi.org/10.1021/acs.chemmater.6c02075
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    Postpartum mice display distinct behavioral and neuroimmune responses to chronic circadian disruption
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  60. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2
    1
    1. ClingenBaseline 06 Nov 2026
      The differential diagnosis of neurodegenerative disorders with atrophy of the cerebral and cerebellar cortex and cerebellar vermis is broad even in young age groups; concomitant occurrence of degeneration of the retina points to lysosomal storage disorders, mitochondrial disorders, defects of carbohydrate glycosylation, and infantile neuroaxonal dystrophy.1–4 We hereby report on the identification of a tricarboxylic acid (TCA) cycle defect manifesting in infancy by the degeneration of the cerebrum, cerebellum, and retina. The subjects of this study were eight individuals, two males and six females, originating from two unrelated families of Arab Muslim origin (Figure 1). Their clinical data are summarized in Table 1. All were born following an uneventful pregnancy and delivery and had normal birth weights, head circumferences, and Apgar scores. Symptoms were first noted at 2–6 months of age and included variable appearance of truncal hyptonia, head bobbing, athetosis, generalized seizures, and ophthalmologic abnormalities that included strabismus, nystagmus, abnormal eye movements, and abnormal pursuit. The course was characterized by failure to thrive, gradual evolution of severe muscle wasting despite satisfactory oral intake, worsening of the hypotonia, attenuating deep tendon reflexes until complete areflexia was reached, progressive microcephaly, variable forms of seizures that were typically triggered by intercurrent febrile illnesses and were partly responsive to anticonvulsants, and failure to gain developmental milestones, culminating in profound psychomotor retardation. A distinctive feature was the appearance of head bobbing and athetoid movements of the upper limbs along with horizontal nystagmus when the individuals were held at the upright position. Visual tracking, normal at the newborn period, steadily deteriorated with the gradual evolution of bilateral optic atrophy. Visual evoked potentials in early infancy were normal, but the electroretinogram responses became critically reduced over the first two years of life, indicating severe retinal dystrophy. Similarly, auditory brain responses declined steadily, reflecting sensorineural hearing loss of variable severity. EEG disclosed generalized or focal spike and wave activity and slow background compatible with nonspecific encephalopathy. Electrophysiologic assessment of peripheral muscles and nerves performed in individual V-2 at 2 years revealed a normal electromyogram and a mild decrease of peripheral sensory and motor velocity suggesting demyelination. Taken together with the gradual disappearance of tendon reflexes, this finding indicates an evolving peripheral demyelinating neuropathy. Figure 1. Open in a new tab Pedigrees of the Two Families (A) Family A and (B) Family B. Affected individuals are represented by filled symbols.Table 1. Clinical Features of Affected Individuals Family A Family B IV-3 IV-5 V-2 V-5 V-7 III-1 III-2 III-3 Sex m f f f m f f f Current age (years) 18 13 7 3 0.5 9 8 2 Birth weight (centile) 2,900 g (10) 3,700 g (75) 2,700 g (10) 2,800 g (15) 3,700 g (75) 3,220 g (25) 3,450 g (50) 2,750 g (10) Birth head circumference (centile) 35 cm (40) 35 cm (50) 35 cm (50) 34 cm (25) 35 cm (40) 34.5 cm (40) 35 cm (50) 34 cm (25) Initial manifestations (age at presentation) H, A (5 months) H, A (6 months) H, A (2 months) H, E (4 months) H, E (3 months) H, S (3 months) A, H (5 months) A, E (5 months) Current weight (centile) 25 kg (−5 SD) 26 kg (−4 SD) 11 kg (−5 SD) 9 kg (−4 SD) 7.7 kg (25) 13 kg (−6 SD) 12 kg (−6 SD) 8 kg (−4 SD) Current head circumference (centile) 47 cm (−5 SD) 49.5 cm (−3 SD) 46.5 cm (−3.5 SD) 46.5 cm (5) 42.7 cm (25) 48.5 cm (−2.5 SD) 48 cm (3) 45.5 cm (5) Global DD/MR profound severe profound profound moderate profound profound severe Current motor skills no intentional movements crawls, rolls sits with support does not roll rolls, does not sit lift head when supine does not role does not role roles both sides Current cognitive skills vegetative state, no smile smile, recognize family smile, recognize family smile, recognize family smile, recognize family no eye contact, does not recognize family no eye contact, responds to auditory stimuli smile, recognize family Ataxia yes yes yes yes very mild yes yes yes Seizures generalized generalized focal and generalized focal and generalized no generalized myoclonic and focal focal and generalized no Retinal dystrophy (age at diagnosis) not evaluated severe (4 years) severe (1 year) severe (1 year) not evaluated profound (2 years) profound (1.5 years) moderate (1.5 years) ophthalmology optic atrophy, strabismus optic atrophy, strabismus optic atrophy, nystagmus optic atrophy, nystagmus, strabismus strabismus optic atrophy, nystagmus optic atrophy, nystagmus optic atrophy, nystagmus, strabismus Initial MR scan (age) not done normal (11 months) mild CoA (3 months) mild CoA (frontal and temporal) (11 months) normal (in utero, 30 weeks) CoA (frontal and temporal) mild thinning of CC (7 months) CoA abnormal WM (16 months) normal (in utero, 31 weeks) Last MR scan (age) not done severe CeA, moderate CoA (frontal and temporal), abnormal periventricular WM signal (12 years) severe CeA, moderate CoA (frontal and temporal), thin CC abnormal WM signal (4 years) severe CeA, moderate CoA (frontal and temporal), thin CC, abnormal WM signal (2.5 years) not done not done mild CoA and CeA (1y) Tendon reflexes absent brisk absent absent normal absent decreased absent Other severe scoliosis moderate SNHL severe SNHL (hearing aids) Open in a new tab The following abbreviations are used: A, ataxia/athetoid movements; H, hypotonia; E, eye abnormalities; S, seizures; HC, head circumference; DD, developmental delay; MR, mental retardation; CoA, cortical atrophy; CeA, cerebellar atrophy; WM, white matter; CC, corpus callosum; SNHL, sensorineural hearing loss.During gestation and throughout the first 6 months, brain MRI was typically normal. Thereafter, repeated MR scans (Figure 2) displayed progressive cerebellar atrophy of both hemispheres and the vermis. In addition, symmetric cortical atrophy gradually evolved, affecting mainly the frontal and temporal lobes along with a striking thinning of the corpus callosum. White matter abnormalities, indicated by T2 and fluid-attenuated inversion recovery (FLAIR) periventricular hyperintense signals, were first noted during the second year of life. Taken together, these serial MR scans revealed generalized progressive brain atrophy affecting primarily the cerebellum and to a lesser extent the white matter and the frontal and parietal lobes of the cerebral cortex. Figure 2. Open in a new tab Representative MRI Findings (A) T2-weighted, coronal section image of individual V-2 at 3 months shows a normal cerebellum and mild cortical atrophy. (B) T1-weighted, coronal section scan of the same individual at 4 years displays severe atrophy of the cerebellar hemispheres (arrowheads) and the vermis (arrows). (C) T1-weighted, coronal section image of individual IV-5 at 12 years shows enlarged cerebellar folia and reduced volume indicating generalized (vermian and hemispheral) atrophy. Note also the mild cortical atrophy and visible sulci. (D) Cortical atrophy and white matter abnormal signals (arrows) demonstrated by FLAIR image of coronal section in the same individual. (E) Moderate cortical atrophy, very thin corpus callosum (arrow), and cerebellar atrophy (arrowhead) in a T1-weighted, sagital section of individual V-5 at 2.5 years. (F) FLAIR image, axial section of individual V-5 displaying frontal and temporal cortical atrophy compared with relatively preserved occipital cortex. The abnormal periventricular white matter signal (arrow) is consistent with dysmyelination.

      Case#: Spiegel Patient V-2 (proband not designated, so was chosen), female, 7yo at report, Arab Muslin origin

      DiseaseAssertion: Infantile Cerebellar-Retinal Degeneration

      FamilyInfo: All eight individuals were homozygous for the mutation; ten parents and one of the healthy sibs were heterozygous, and three healthy sibs were homozygous for the normal allele. 3 additional affected individuals are deceased, so it is possible that they were not genotyped and that may be the reason for the discrepancy in the count.

      CasePresentingHPOs: HP:0000648, HP:0000639, HP:0012736, HP:0001252, HP:0001251, HP:0002194, HP:0100543, HP:0007359, HP:0002197, HP:0000556, HP:0002120, HP:0001272, HP:0033725, HP:0002500, HP:0001284, HP:0000407

      CaseHPOFreeText: birth weight= 2,700 g (10th centile); birth head circumference= 35 cm (50th centile); initial manifestations: hypotonia and ataxia at 2 months; current weight= 11 kg (−5 SD); current head circumference= 46.5 cm (−3.5 SD); current motor skills= does not roll; current cognitive skills= smile, recognize family; focal and generalized seizures; severe retinal dystrophy dx at 1yo; mild cortical atrophy on MR scan at 3mo; severe cerebellar atrophy, moderate cortical atrophy (frontal and temporal), thin corpus callosum, abnormal white matter signal last MR scan at 4 yo; moderate sensorineural hearing loss

      CaseNotHPOs:

      CaseNotHPOFreeText:

      GenotypingMethod: homozygosity mapping, WES

      PreviouslyPublished: n/a

      Variant: c.336C>G in ACO2 [MIM 100850] (NM_001098.2), which causes p.Ser112Arg (NP_001089.1). homozygous

      ClinVar: 29584

      FunctionalEvidence: Specific aconitase activity in the individuals' lymphoblasts was severely reduced. Under restrictive conditions, the mutant human ACO2 failed to complement a yeast ACO1 deletion strain, whereas the wild-type human ACO2 succeeded,

      AdditionalInfo: 2 "unrelated" families reported, but "Affected individuals of both unrelated clans shared a similar homozygous haplotype, indicating that Ser112Arg is a founder mutation in this population" so will count the segregations as one family

      SupplementalData: n/a

      CaseInfo Individual ClinVarID:29584 inferred_gene_hgnc:118 inferred_gene_source:ClinVar UNC Biocuration Core
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    pmc.ncbi.nlm.nih.gov/articles/PMC3309186/