C9orf72 - Open Access .click

Results 91 to 100 of about 21,720 (221)

Nanomaterial‐based immune therapeutic strategies in neurodegenerative diseases

BMEMat, EarlyView.
This review highlights the immunomodulatory potential of nanomaterials (NMs) in treating neurodegenerative diseases (NDs). It focuses on their roles in regulating innate and adaptive immune responses to maintain immune homeostasis. By providing insights into these mechanisms, the review lays the groundwork for innovative NMs therapeutic strategies to ...
Xinru Zhou +6 more
wiley +1 more source

GGGGCC microsatellite RNA is neuritically localized, induces branching defects, and perturbs transport granule function

eLife, 2015
Microsatellite expansions are the leading cause of numerous neurodegenerative disorders. Here we demonstrate that GGGGCC and CAG microsatellite repeat RNAs associated with C9orf72 in amyotrophic lateral sclerosis/frontotemporal dementia and with ...
Alondra Schweizer Burguete +5 more
doaj +1 more source

Structure of the human C9orf72-SMCR8 complex reveals a multivalent protein interaction architecture.

PLoS Biology, 2021
A major cause of familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) spectrum disorder is the hexanucleotide G4C2 repeat expansion in the first intron of the C9orf72 gene.
Julia Nörpel +7 more
doaj +1 more source

SRSF1-dependent nuclear export of C9ORF72 repeat-transcripts: targeting toxic gain-of-functions induced by protein sequestration as a selective therapeutic strategy for neuroprotection [PDF]

, 2018
Microsatellite repeat expansions cause several incurable and lethal neurodegenerative disorders including ataxias, myotonic dystrophy, Huntington's disease and C9ORF72-linked amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD ...
Azzouz, M. +8 more
core +1 more source

Genome‐Wide Assessment Reveals Ancestral Differences in Homozygosity Patterns Potentially Linked to Parkinson's Disease Etiology

Movement Disorders, EarlyView.
Abstract Background Recessive genetic variation and extended runs of homozygosity (ROHs) may contribute to the unexplained heritability of Parkinson's disease (PD), particularly in diverse and understudied populations. Objective We conducted the first large‐scale, multi‐ancestral investigation of PD to examine the impact of genome‐wide homozygosity on ...
Kathryn Step +680 more
wiley +1 more source

Psychiatric Symptoms in Amyotrophic Lateral Sclerosis: Beyond a Motor Neuron Disorder

Frontiers in Neuroscience, 2019
The historical view that Amyotrophic Lateral Sclerosis (ALS) as a pure motor disorder has been increasingly challenged by the discovery of cognitive and behavioral changes in the spectrum of Frontotemporal Dementia (FTD).
Elisabetta Zucchi +3 more
doaj +1 more source

Characterization of an FTLD-PDB family with the coexistence of SQSTM1 mutation and hexanucleotide (G4C2) repeat expansion in C9orf72 gene [PDF]

, 2016
The C9orf72 expansion is considered a major genetic cause of familial frontotemporal dementia (FTD) in several patients' cohorts. Interestingly, C9orf72 expansion carriers, present also abundant neuronal p62-positive inclusions.
Almeida, MR +8 more
core +1 more source

Proteomic profile of CSF obtained at the time of diagnosis determines amyotrophic lateral sclerosis progression and survival: CXCL7 levels in disease prognosis and survival

Brain Pathology, EarlyView.
Untargeted multiomic profiling of cerebrospinal fluid reveals that proteomic, but not lipidomic, signatures robustly distinguish ALS patients from controls and stratify individuals by survival, highlighting marked molecular differences between short survival and long survival disease.
Sergio Roca‐Pereira +19 more
wiley +1 more source

Associations between TMEM106B C‐terminal fragment aggregation, age, and TDP‐43 or tau pathology

Brain Pathology, EarlyView.
TMEM106B C‐terminal fragment (CTF) aggregation represents an age‐associated, common, diffuse phenomenon emerging after midlife with a weak association with TDP‐43 or tau pathology. These findings suggest that TMEM106B fibrillization may define a distinct axis of protein aggregation in the aging human brain. Abstract Transmembrane protein 106B (TMEM106B)
Albert Acewicz +5 more
wiley +1 more source

Viral delivery of antioxidant genes as a therapeutic strategy in experimental models of amyotrophic lateral sclerosis. [PDF]

, 2013
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder with no effective treatment to date. Despite its multi-factorial aetiology, oxidative stress is hypothesized to be one of the key pathogenic mechanisms.
Azzouz, M +6 more
core +1 more source

amyotrophic lateral sclerosis
frontotemporal dementia
medicine

frontotemporal lobar degeneration
autophagy
als

genetics
neurodegeneration
tdp-43