[HTML][HTML] Phase separation and neurodegenerative diseases: a disturbance in the force
A Zbinden, M Pérez-Berlanga, P De Rossi… - Developmental cell, 2020 - cell.com
Protein aggregation is the main hallmark of neurodegenerative diseases. Many proteins
found in pathological inclusions are known to undergo liquid-liquid phase separation, a …
found in pathological inclusions are known to undergo liquid-liquid phase separation, a …
Genetic epidemiology of amyotrophic lateral sclerosis: a systematic review and meta-analysis
ZY Zou, ZR Zhou, CH Che, CY Liu, RL He… - Journal of Neurology …, 2017 - jnnp.bmj.com
Background Genetic studies have shown that C9orf72, SOD1, TARDBP and FUS are the
most common mutated genes in amyotrophic lateral sclerosis (ALS). Here, we performed a …
most common mutated genes in amyotrophic lateral sclerosis (ALS). Here, we performed a …
Comprehensive analysis of the mutation spectrum in 301 German ALS families
Objectives Recent advances in amyotrophic lateral sclerosis (ALS) genetics have revealed
that mutations in any of more than 25 genes can cause ALS, mostly as an autosomal …
that mutations in any of more than 25 genes can cause ALS, mostly as an autosomal …
Transgenic and physiological mouse models give insights into different aspects of amyotrophic lateral sclerosis
F De Giorgio, C Maduro, EMC Fisher… - Disease models & …, 2019 - journals.biologists.com
ABSTRACT A wide range of genetic mouse models is available to help researchers dissect
human disease mechanisms. Each type of model has its own distinctive characteristics …
human disease mechanisms. Each type of model has its own distinctive characteristics …
Fused in sarcoma: properties, self-assembly and correlation with neurodegenerative diseases
Fused in sarcoma (FUS) is a DNA/RNA binding protein that is involved in RNA metabolism
and DNA repair. Numerous reports have demonstrated by pathological and genetic analysis …
and DNA repair. Numerous reports have demonstrated by pathological and genetic analysis …
Recent advances in amyotrophic lateral sclerosis
ALS is a relentlessly progressive and fatal disease, with no curative therapies available to
date. Symptomatic and palliative care, provided in a multidisciplinary context, still remains …
date. Symptomatic and palliative care, provided in a multidisciplinary context, still remains …
Mitochondrial DNA copy number and D-loop region methylation in carriers of amyotrophic lateral sclerosis gene mutations
A Stoccoro, L Mosca, V Carnicelli, U Cavallari… - …, 2018 - Taylor & Francis
Aim: To investigate mitochondrial DNA (mtDNA) copy number and D-loop region
methylation in carriers of SOD1, TARDBP, FUS and C9orf72 mutations. Methods …
methylation in carriers of SOD1, TARDBP, FUS and C9orf72 mutations. Methods …
The role of de novo mutations in adult-onset neurodegenerative disorders
G Nicolas, JA Veltman - Acta Neuropathologica, 2019 - Springer
The genetic underpinnings of the most common adult-onset neurodegenerative disorders
(AOND) are complex in majority of the cases. In some families, however, the disease can be …
(AOND) are complex in majority of the cases. In some families, however, the disease can be …
Reduced mitochondrial D-loop methylation levels in sporadic amyotrophic lateral sclerosis
A Stoccoro, AR Smith, L Mosca, A Marocchi… - Clinical …, 2020 - Springer
Background Mitochondrial dysregulation and aberrant epigenetic mechanisms have been
frequently reported in neurodegenerative diseases, including amyotrophic lateral sclerosis …
frequently reported in neurodegenerative diseases, including amyotrophic lateral sclerosis …
Increase in DNA methylation in patients with amyotrophic lateral sclerosis carriers of not fully penetrant SOD1 mutations
Objective: More than 180 different superoxide dismutase 1 (SOD1) mutations have been
described to date in amyotrophic lateral sclerosis (ALS) patients, including not completely …
described to date in amyotrophic lateral sclerosis (ALS) patients, including not completely …