Article

Distribution of ubiquilin 2 and TDP-43 aggregates throughout the CNS in UBQLN2 p.T487I-linked amyotrophic lateral sclerosis and frontotemporal dementia

2023-02-10

Abstract excerpt

Mutations in the UBQLN2 gene cause amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The neuropathology of such UBQLN2 -linked cases of ALS/FTD is characterised by aggregates of the ubiquilin 2 protein in addition to aggregates of the transactive response DNA-binding protein of 43 kDa (TDP-43). ALS and FTD without UBQLN2 mutations are also characterised by TDP-43 aggregates, that may or may...

Topics

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

Identifiers and source

Literature Corpus work: d7cb56f8-0ec0-570c-aba8-18a871390534
DOI: 10.1101/2023.02.10.527924

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Distribution of ubiquilin 2 and TDP-43 aggregates throughout the CNS in UBQLN2 p.T487I-linked amyotrophic lateral sclerosis and frontotemporal dementiaDOI 10.1101/2023.02.10.527924Read

Distribution of ubiquilin 2 and TDP-43 aggregates throughout the CNS in UBQLN2 p.T487I-linked amyotrophic lateral sclerosis and frontotemporal dementia.Semantic proximity Read

Hippocampal protein aggregation signatures fully distinguish pathogenic and wildtype UBQLN2 in amyotrophic lateral sclerosisSemantic proximity Read

Disturbance of proteasomal and autophagic protein degradation pathways by amyotrophic lateral sclerosis-linked mutations in ubiquilin 2.Semantic proximity Read

UBQLN2/ubiquilin 2 mutation and pathology in familial amyotrophic lateral sclerosis.Semantic proximity Read

UBQLN2 in neurodegenerative disease: mechanistic insights and emerging therapeutic potential.Semantic proximity Read

Viral expression of ALS-linked ubiquilin-2 mutants causes inclusion pathology and behavioral deficits in miceSemantic proximity Read

Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia.Semantic proximity Read

UBQLN2 mutation causing heterogeneous X-linked dominant neurodegeneration.Semantic proximity Read

Global proteomics of Ubqln2-based murine models of ALSSemantic proximity Read

Reduced Soluble Ubiquilin2 in Amyotrophic Lateral Sclerosis Carrying Ubiquilin2 (P494L) Mutation: Clinicopathological and Biochemical Evidence From an Autopsy Case.Semantic proximity Read

Global proteomics of Ubqln 2-based murine models of ALSSemantic proximity Read

Prion protein pathology in Ubiquilin 2 models of ALS.Semantic proximity Read

Distribution of ubiquilin 2 and TDP-43 aggregates throughout the CNS in <i>UBQLN2</i> p.T487I-linked amyotrophic lateral sclerosis and frontotemporal dementia

Abstract excerpt

Topics

Identifiers and source

Related research