Novel genes associated with amyotrophic lateral sclerosis: diagnostic and clinical implications
Background The disease course of amyotrophic lateral sclerosis (ALS) is rapid and,
because its pathophysiology is unclear, few effective treatments are available. Genetic …
because its pathophysiology is unclear, few effective treatments are available. Genetic …
Mitochondrial hyperfusion: a friend or a foe
R Das, O Chakrabarti - Biochemical Society Transactions, 2020 - portlandpress.com
The cellular mitochondrial population undergoes repeated cycles of fission and fusion to
maintain its integrity, as well as overall cellular homeostasis. While equilibrium usually exists …
maintain its integrity, as well as overall cellular homeostasis. While equilibrium usually exists …
CHCHD10 mutations promote loss of mitochondrial cristae junctions with impaired mitochondrial genome maintenance and inhibition of apoptosis
EC Genin, M Plutino, S Bannwarth, E Villa… - EMBO molecular …, 2016 - embopress.org
CHCHD 10‐related diseases include mitochondrial DNA instability disorder, frontotemporal
dementia‐amyotrophic lateral sclerosis (FTD‐ALS) clinical spectrum, late‐onset spinal …
dementia‐amyotrophic lateral sclerosis (FTD‐ALS) clinical spectrum, late‐onset spinal …
Multi-OMICS study of a CHCHD10 variant causing ALS demonstrates metabolic rewiring and activation of endoplasmic reticulum and mitochondrial unfolded protein …
IR Straub, W Weraarpachai… - Human Molecular …, 2021 - academic.oup.com
Mutations in CHCHD10, coding for a mitochondrial intermembrane space protein, are a rare
cause of autosomal dominant amyotrophic lateral sclerosis. Mutation-specific toxic gain of …
cause of autosomal dominant amyotrophic lateral sclerosis. Mutation-specific toxic gain of …
The gut microbiota-immunity axis in ALS: a role in deciphering disease heterogeneity?
Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disorder with an unknown
etiology and no effective treatment, and is characterized by large phenotypic heterogeneity …
etiology and no effective treatment, and is characterized by large phenotypic heterogeneity …
[HTML][HTML] Genetic testing and genetic counseling for amyotrophic lateral sclerosis: an update for clinicians
J Roggenbuck, A Quick, SJ Kolb - Genetics in Medicine, 2017 - Elsevier
Patients with amyotrophic lateral sclerosis (ALS) often have questions about why they
developed the disease and the likelihood that family members will also be affected. In recent …
developed the disease and the likelihood that family members will also be affected. In recent …
Loss of CHCHD10–CHCHD2 complexes required for respiration underlies the pathogenicity of a CHCHD10 mutation in ALS
Coiled-helix coiled-helix domain containing protein 10 (CHCHD10) and its paralogue
CHCHD2 belong to a family of twin CX9C motif proteins, most of which localize to the …
CHCHD2 belong to a family of twin CX9C motif proteins, most of which localize to the …
Mitochondria, a key target in amyotrophic lateral sclerosis pathogenesis
EC Genin, M Abou-Ali, V Paquis-Flucklinger - Genes, 2023 - mdpi.com
Mitochondrial dysfunction occurs in numerous neurodegenerative diseases, particularly
amyotrophic lateral sclerosis (ALS), where it contributes to motor neuron (MN) death. Of all …
amyotrophic lateral sclerosis (ALS), where it contributes to motor neuron (MN) death. Of all …
[HTML][HTML] Investigating the role of ALS genes CHCHD10 and TUBA4A in Belgian FTD-ALS spectrum patients
Mutation screening and phenotypic profiling of 2 amyotrophic lateral sclerosis–(ALS) and
frontotemporal dementia–(FTD) associated genes, CHCHD10 and TUBA4A, were …
frontotemporal dementia–(FTD) associated genes, CHCHD10 and TUBA4A, were …
ALS: recent developments from genetics studies
Amyotrophic lateral sclerosis (ALS) is a fatal disorder that is characterized by a progressive
degeneration of the upper and lower motor neurons. Most cases appear to be sporadic, but …
degeneration of the upper and lower motor neurons. Most cases appear to be sporadic, but …