Article

An ANXA11 P93S variant dysregulates TDP-43 and causes corticobasal syndrome

2023-10-19

Abstract excerpt

<title>Abstract</title> <p>As genetic testing has become more accessible and affordable, variants of uncertain significance (VUS) are increasingly identified, and determining whether these variants play causal roles in disease is a major challenge. The known disease-associated Annexin A11 (ANXA11) mutations result in ANXA11 aggregation, alterations in lysosomal-RNA granule co-trafficking, and TDP-43 mis-localizat...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: d71fe627-37d5-5ea2-bd6e-e168267a6e7a
DOI: 10.21203/rs.3.rs-3462973/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

An ANXA11 P93S variant dysregulates TDP-43 and causes corticobasal syndromeDOI 10.21203/rs.3.rs-3462973/v1Read

An ANXA11 P93S variant dysregulates TDP-43 and causes corticobasal syndrome.Semantic proximity Read

Expanding the spectrum of annexin A11 proteinopathy in frontotemporal lobar degeneration and motor neuron diseaseSemantic proximity Read

The genetics of TDP43-Type-C neurodegeneration: a whole genome sequencing studySemantic proximity Read

Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis.Semantic proximity Read

A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects.Semantic proximity Read

Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes.Semantic proximity Read

ANXA11 mutations in ALS cause dysregulation of calcium homeostasis and stress granule dynamics.Semantic proximity Read

Common pathophysiology for ANXA11 disorders caused by aspartate 40 variants.Semantic proximity Read

Functional Analyses in Patient-Derived Neurons Establish Pathogenicity for STXBP1 Splice Variant c.429+5G>A.Semantic proximity Read

The Phenotypic Continuum of ATP1A3-Related Disorders.Semantic proximity Read

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.Semantic proximity Read

Clinical and genetic characteristics of amyotrophic lateral sclerosis patients with ANXA11 variantsSemantic proximity Read