[HTML][HTML] Current knowledge and recent insights into the genetic basis of amyotrophic lateral sclerosis
AE Volk, JH Weishaupt, PM Andersen… - Medizinische …, 2018 - degruyter.com
Die amyotrophe Lateralsklerose (ALS) ist die häufigste neurodegenerative Erkrankung des
motorischen Nervensystems. Ursächlich ist der Untergang des ersten und/oder zweiten …
motorischen Nervensystems. Ursächlich ist der Untergang des ersten und/oder zweiten …
The 'mitochondrial contact site and cristae organising system'(MICOS) in health and human disease
MJ Eramo, V Lisnyak, LE Formosa… - The Journal of …, 2020 - academic.oup.com
The 'mitochondrial contact site and cristae organising system'(MICOS) is an essential protein
complex that promotes the formation, maintenance and stability of mitochondrial cristae. As …
complex that promotes the formation, maintenance and stability of mitochondrial cristae. As …
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 …
ALS/FTD mutant CHCHD10 mice reveal a tissue-specific toxic gain-of-function and mitochondrial stress response
CJ Anderson, K Bredvik, SR Burstein, C Davis… - Acta …, 2019 - Springer
Mutations in coiled-coil-helix–coiled-coil-helix domain containing 10 (CHCHD10), a
mitochondrial protein of unknown function, cause a disease spectrum with clinical features …
mitochondrial protein of unknown function, cause a disease spectrum with clinical features …
CHCHD10 modulates thermogenesis of adipocytes by regulating lipolysis
M Ding, Y Ma, R Du, W Zhou, X Dou, Q Yang… - Diabetes, 2022 - Am Diabetes Assoc
Brown and beige adipocytes dissipate energy in a nonshivering thermogenesis manner,
exerting beneficial effects on metabolic homeostasis. CHCHD10 is a nuclear-encoded …
exerting beneficial effects on metabolic homeostasis. CHCHD10 is a nuclear-encoded …
CHCHD2 accumulates in distressed mitochondria and facilitates oligomerization of CHCHD10
X Huang, BP Wu, D Nguyen, YT Liu… - Human molecular …, 2018 - academic.oup.com
Mutations in paralogous mitochondrial proteins CHCHD2 and CHCHD10 cause autosomal
dominant Parkinson Disease (PD) and Amyotrophic Lateral Sclerosis/Frontotemporal …
dominant Parkinson Disease (PD) and Amyotrophic Lateral Sclerosis/Frontotemporal …
[HTML][HTML] Neurodegeneration-associated mitochondrial proteins, CHCHD2 and CHCHD10–what distinguishes the two?
A Ikeda, Y Imai, N Hattori - Frontiers in Cell and Developmental …, 2022 - frontiersin.org
Coiled-coil-helix-coiled-coil-helix domain containing 2 (CHCHD2) and Coiled-coil-helix-
coiled-coil-helix domain containing 10 (CHCHD10) are mitochondrial proteins that are …
coiled-coil-helix domain containing 10 (CHCHD10) are mitochondrial proteins that are …
[HTML][HTML] TDP-43 and PINK1 mediate CHCHD10S59L mutation–induced defects in Drosophila and in vitro
M Baek, YJ Choe, S Bannwarth, JH Kim… - Nature …, 2021 - nature.com
Mutations in coiled-coil-helix-coiled-coil-helix domain containing 10 (CHCHD10) can cause
amyotrophic lateral sclerosis and frontotemporal dementia (ALS-FTD). However, the …
amyotrophic lateral sclerosis and frontotemporal dementia (ALS-FTD). However, the …
Loss of mitochondrial protein CHCHD10 in skeletal muscle causes neuromuscular junction impairment
Y Xiao, J Zhang, X Shu, L Bai, W Xu… - Human molecular …, 2020 - academic.oup.com
The neuromuscular junction (NMJ) is a synapse between motoneurons and skeletal
muscles to control motor behavior. Acetylcholine receptors (AChRs) are restricted at the …
muscles to control motor behavior. Acetylcholine receptors (AChRs) are restricted at the …
A novel CHCHD10 mutation implicates a Mia40‐dependent mitochondrial import deficit in ALS
C Lehmer, MH Schludi, L Ransom… - EMBO molecular …, 2018 - embopress.org
CHCHD10 mutations are linked to amyotrophic lateral sclerosis, but their mode of action is
unclear. In a 29‐year‐old patient with rapid disease progression, we discovered a novel …
unclear. In a 29‐year‐old patient with rapid disease progression, we discovered a novel …