Mitochondrial disorders of the OXPHOS system
E Fernandez‐Vizarra, M Zeviani - FEBS letters, 2021 - Wiley Online Library
Mitochondrial disorders are among the most frequent inborn errors of metabolism, their
primary cause being the dysfunction of the oxidative phosphorylation system (OXPHOS) …
primary cause being the dysfunction of the oxidative phosphorylation system (OXPHOS) …
Spinocerebellar ataxia: an update
R Sullivan, WY Yau, E O'Connor, H Houlden - Journal of neurology, 2019 - Springer
Spinocerebellar ataxia (SCA) is a heterogeneous group of neurodegenerative ataxic
disorders with autosomal dominant inheritance. We aim to provide an update on the recent …
disorders with autosomal dominant inheritance. We aim to provide an update on the recent …
[HTML][HTML] Hereditary ataxias: overview
S Jayadev, TD Bird - Genetics in Medicine, 2013 - Elsevier
The hereditary ataxias are a highly heterogeneous group of disorders phenotypically
characterized by gait ataxia, incoordination of eye movements, speech, and hand …
characterized by gait ataxia, incoordination of eye movements, speech, and hand …
ATP synthase diseases of mitochondrial genetic origin
Devastating human neuromuscular disorders have been associated to defects in the ATP
synthase. This enzyme is found in the inner mitochondrial membrane and catalyzes the last …
synthase. This enzyme is found in the inner mitochondrial membrane and catalyzes the last …
Human diseases associated with defects in assembly of OXPHOS complexes
D Ghezzi, M Zeviani - Essays in biochemistry, 2018 - portlandpress.com
The structural biogenesis and functional proficiency of the multiheteromeric complexes
forming the mitochondrial oxidative phosphorylation system (OXPHOS) require the …
forming the mitochondrial oxidative phosphorylation system (OXPHOS) require the …
MT‐ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases
RD Ganetzky, C Stendel, EM McCormick… - Human …, 2019 - Wiley Online Library
Mitochondrial complex V (CV) generates cellular energy as adenosine triphosphate (ATP).
Mitochondrial disease caused by the m. 8993T> G pathogenic variant in the CV subunit …
Mitochondrial disease caused by the m. 8993T> G pathogenic variant in the CV subunit …
Mitochondrial protein dysfunction in pathogenesis of neurological diseases
L Wang, Z Yang, X He, S Pu, C Yang, Q Wu… - Frontiers in Molecular …, 2022 - frontiersin.org
Mitochondria are essential organelles for neuronal function and cell survival. Besides the
well-known bioenergetics, additional mitochondrial roles in calcium signaling, lipid …
well-known bioenergetics, additional mitochondrial roles in calcium signaling, lipid …
[HTML][HTML] Understanding structure, function, and mutations in the mitochondrial ATP synthase
T Xu, V Pagadala, DM Mueller - Microbial cell, 2015 - ncbi.nlm.nih.gov
The mitochondrial ATP synthase is a multimeric enzyme complex with an overall molecular
weight of about 600,000 Da. The ATP synthase is a molecular motor composed of two …
weight of about 600,000 Da. The ATP synthase is a molecular motor composed of two …
Spinocerebellar ataxias (SCAs) caused by common mutations
U Müller - neurogenetics, 2021 - Springer
The term SCA refers to a phenotypically and genetically heterogeneous group of autosomal
dominant spinocerebellar ataxias. Phenotypically they present as gait ataxia frequently in …
dominant spinocerebellar ataxias. Phenotypically they present as gait ataxia frequently in …
A novel mutation m.8561C>G in MT-ATP6/8 causing a mitochondrial syndrome with ataxia, peripheral neuropathy, diabetes mellitus, and hypergonadotropic …
L Kytövuori, J Lipponen, H Rusanen, T Komulainen… - Journal of …, 2016 - Springer
Defects in the respiratory chain or mitochondrial ATP synthase (complex V) result in
mitochondrial dysfunction that is an important cause of inherited neurological disease. Two …
mitochondrial dysfunction that is an important cause of inherited neurological disease. Two …