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) …
Leigh syndrome: one disorder, more than 75 monogenic causes
Leigh syndrome is the most common pediatric presentation of mitochondrial disease. This
neurodegenerative disorder is genetically heterogeneous, and to date pathogenic mutations …
neurodegenerative disorder is genetically heterogeneous, and to date pathogenic mutations …
Impaired complex I repair causes recessive Leber's hereditary optic neuropathy
SL Stenton, NL Sheremet, CB Catarino… - The Journal of …, 2021 - Am Soc Clin Investig
Leber's hereditary optic neuropathy (LHON) is the most frequent mitochondrial disease and
was the first to be genetically defined by a point mutation in mitochondrial DNA (mtDNA). A …
was the first to be genetically defined by a point mutation in mitochondrial DNA (mtDNA). A …
Monogenic mitochondrial disorders
WJH Koopman, PHGM Willems… - New England Journal …, 2012 - Mass Medical Soc
Monogenic Mitochondrial Disorders | New England Journal of Medicine Skip to main content The
New England Journal of Medicine homepage Advanced Search SEARCH SPECIALTIES …
New England Journal of Medicine homepage Advanced Search SEARCH SPECIALTIES …
[HTML][HTML] The function and the role of the mitochondrial glycerol-3-phosphate dehydrogenase in mammalian tissues
T Mráček, Z Drahota, J Houštěk - Biochimica et Biophysica Acta (BBA) …, 2013 - Elsevier
Mitochondrial glycerol-3-phosphate dehydrogenase (mGPDH) is not included in the
traditional textbook schemes of the respiratory chain, reflecting the fact that it is a non …
traditional textbook schemes of the respiratory chain, reflecting the fact that it is a non …
The molecular and cellular basis of copper dysregulation and its relationship with human pathologies
MT Maung, A Carlson, M Olea‐Flores… - The FASEB …, 2021 - Wiley Online Library
Copper (Cu) is an essential micronutrient required for the activity of redox‐active enzymes
involved in critical metabolic reactions, signaling pathways, and biological functions …
involved in critical metabolic reactions, signaling pathways, and biological functions …
Mitochondria as a source of reactive oxygen and nitrogen species: from molecular mechanisms to human health
Mitochondrially generated reactive oxygen species are involved in a myriad of signaling and
damaging pathways in different tissues. In addition, mitochondria are an important target of …
damaging pathways in different tissues. In addition, mitochondria are an important target of …
Basic mechanisms of neurodegeneration: a critical update
KA Jellinger - Journal of cellular and molecular medicine, 2010 - Wiley Online Library
Introduction• Protein aggregation‐'Toxic oligomer'hypothesis‐Protein (mis) folding‐
Proteostasis and molecular chaperones‐Protein misfolding and endoplasmic reticulum …
Proteostasis and molecular chaperones‐Protein misfolding and endoplasmic reticulum …
[HTML][HTML] Understanding mitochondrial complex I assembly in health and disease
M Mimaki, X Wang, M McKenzie, DR Thorburn… - … et Biophysica Acta (BBA …, 2012 - Elsevier
Complex I (NADH: ubiquinone oxidoreductase) is the largest multimeric enzyme complex of
the mitochondrial respiratory chain, which is responsible for electron transport and the …
the mitochondrial respiratory chain, which is responsible for electron transport and the …
The interneuron energy hypothesis: implications for brain disease
O Kann - Neurobiology of disease, 2016 - Elsevier
Fast-spiking, inhibitory interneurons–prototype is the parvalbumin-positive (PV+) basket cell–
generate action potentials at high frequency and synchronize the activity of numerous …
generate action potentials at high frequency and synchronize the activity of numerous …