ArticleAnnals of clinical and translational neurology2022
Adult-onset dominant muscular dystrophy in Greek families caused by Annexin A11.
Article in Annals of clinical and translational neurology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 20 citations in OpenAlex.
- Sorcin couples Annexin A11 recruitment to ESCRT-III assembly for plasma membrane repair.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Annexin A11 and TDP-43: core players in neurodegeneration.Acta neuropathologica · 2026Review
- Sorcin couples Annexin A11 recruitment and ESCRT-III assembly during plasma membrane repair.bioRxiv : the preprint server for biology · 2026Article
- Physiological and pathological roles of ANXA11: a multifunctional regulator in neurodegeneration and other disorders.Cell communication and signaling : CCS · 2026Review
- ANXA11 Variant-Associated Adult-Onset Myopathy: A Novel Phenotype.Annals of Indian Academy of Neurology · 2026Article
- Expanding the spectrum of annexin A11 proteinopathy in frontotemporal lobar degeneration and motor neuron disease.Acta neuropathologica · 2025Article
- Semantic variant primary progressive aphasia with ANXA11 p.D40G.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025Article
- Annexin A11 mutations are associated with nuclear envelope dysfunction in vivo and in human tissues.Brain : a journal of neurology · 2025Article
- Gain-of-function ANXA11 mutation cause late-onset ALS with aberrant protein aggregation, neuroinflammation and autophagy impairment.Acta neuropathologica communications · 2025Article
- Human TDP43 is required for ALS‑related annexin A11 toxicity inBiomedical reports · 2024Article
- Article
- Dominantly inherited muscle disorders: understanding their complexity and exploring therapeutic approaches.Disease models & mechanisms · 2024Review
- An ANXA11 P93S variant dysregulates TDP-43 and causes corticobasal syndrome.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024Article
- Skeletal muscle in amyotrophic lateral sclerosis.Brain : a journal of neurology · 2023Review
- Translational implications of targeting annexin A2: From membrane repair to muscular dystrophy, cardiovascular disease and cancer.Clinical and translational discovery · 2023Article
- Common pathophysiology for ANXA11 disorders caused by aspartate 40 variants.Annals of clinical and translational neurology · 2023Article
- AnnexinA6: a potential therapeutic target gene for extracellular matrix mineralization.Frontiers in cell and developmental biology · 2023Review
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Authors and funding
10 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveMutations in the prion-like domain of RNA binding proteins cause dysfunctional stress responses and associated aggregate pathology in patients with neurogenic and myopathic phenotypes. Recently, mutations in ANXA11 have been reported in patients with amyotrophic lateral sclerosis and multisystem proteinopathy. Here we studied families with an autosomal dominant muscle disease caused by ANXA11:c.118G > T;p.D40Y.
methodsWe performed deep phenotyping and exome sequencing of patients from four large Greek families, including seven affected individuals with progressive muscle disease but no family history of multi-organ involvement or ALS.
resultsIn our study, all patients presented with an autosomal dominant muscular dystrophy without any Paget disease of bone nor signs of frontotemporal dementia or Parkinson's disease. Histopathological analysis showed rimmed vacuoles with annexin A11 accumulations. Electron microscopy analysis showed myofibrillar abnormalities with disorganization of the sarcomeric structure and Z-disc dissolution, and subsarcolemmal autophagic material with myeloid formations. Molecular genetic analysis revealed ANXA11:c.118G > T;p.D40Y segregating with the phenotype.
interpretationAlthough the pathogenic mechanisms associated with p.D40Y mutation in the prion-like domain of Annexin A11 need to be further clarified, our study provides robust and clear genetic evidence to support the expansion of the phenotypic spectrum of ANXA11.
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