Leigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA)
about
SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumorsSuccinate Dehydrogenase Loss in Familial Paraganglioma: Biochemistry, Genetics, and EpigeneticsSDHAF4 promotes mitochondrial succinate dehydrogenase activity and prevents neurodegeneration.Current views on cell metabolism in SDHx-related pheochromocytoma and paragangliomaThe in-depth evaluation of suspected mitochondrial diseaseSDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity.Succinate dehydrogenase - Assembly, regulation and role in human disease.SDHA is a tumor suppressor gene causing paraganglioma.Selection of reference gene expression in a schizophrenia brain cohort.Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase.SDHA loss of function mutations in a subset of young adult wild-type gastrointestinal stromal tumorsSuccinate dehydrogenase-deficient GISTs: a clinicopathologic, immunohistochemical, and molecular genetic study of 66 gastric GISTs with predilection to young ageClinicoradiological manifestations of paraganglioma syndromes associated with succinyl dehydrogenase enzyme mutation.The mutations associated with dilated cardiomyopathyProtein-mediated assembly of succinate dehydrogenase and its cofactorsStructural basis for malfunction in complex II.Genetic insights into OXPHOS defect and its role in cancerRecessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiencyTricarboxylic acid cycle dysfunction as a cause of human diseases and tumor formation.Immunohistochemical loss of succinate dehydrogenase subunit A (SDHA) in gastrointestinal stromal tumors (GISTs) signals SDHA germline mutationDrosophila melanogaster as a model organism of brain diseasesWest syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1The power of yeast to model diseases of the powerhouse of the cell.Neurodevelopmental manifestations of mitochondrial disease.Recent advances in the genetics of SDH-related paraganglioma and pheochromocytomaMitochondrial respiratory chain complexes: apoptosis sensors mutated in cancer?Mitochondrial disease and epilepsy.Pheochromocytoma and paraganglioma: understanding the complexities of the genetic background.Mitochondrial epilepsy in pediatric and adult patients.Loss of LRPPRC causes ATP synthase deficiencyAlternative Fuels in Epilepsy and Amyotrophic Lateral Sclerosis.Reactive oxygen species act remotely to cause synapse loss in a Drosophila model of developmental mitochondrial encephalopathy.Estrogen receptor β activation impairs mitochondrial oxidative metabolism and affects malignant mesothelioma cell growth in vitro and in vivo.Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome.Triheptanoin protects against status epilepticus-induced hippocampal mitochondrial dysfunctions, oxidative stress and neuronal degeneration.SDHA mutation with dominant transmission results in complex II deficiency with ocular, cardiac, and neurologic involvement.
P2860
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P2860
Leigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA)
description
2006 nî lūn-bûn
@nan
2006 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Leigh syndrome caused by mutat ...... succinate dehydrogenase (SDHA)
@ast
Leigh syndrome caused by mutat ...... succinate dehydrogenase (SDHA)
@en
Leigh syndrome caused by mutat ...... succinate dehydrogenase (SDHA)
@en-gb
Leigh syndrome caused by mutat ...... succinate dehydrogenase (SDHA)
@nl
type
label
Leigh syndrome caused by mutat ...... succinate dehydrogenase (SDHA)
@ast
Leigh syndrome caused by mutat ...... succinate dehydrogenase (SDHA)
@en
Leigh syndrome caused by mutat ...... succinate dehydrogenase (SDHA)
@en-gb
Leigh syndrome caused by mutat ...... succinate dehydrogenase (SDHA)
@nl
prefLabel
Leigh syndrome caused by mutat ...... succinate dehydrogenase (SDHA)
@ast
Leigh syndrome caused by mutat ...... succinate dehydrogenase (SDHA)
@en
Leigh syndrome caused by mutat ...... succinate dehydrogenase (SDHA)
@en-gb
Leigh syndrome caused by mutat ...... succinate dehydrogenase (SDHA)
@nl
P2093
P2860
P50
P356
P1476
Leigh syndrome caused by mutat ...... succinate dehydrogenase (SDHA)
@en
P2093
P2860
P356
10.1136/JNNP.2005.067041
P407
P577
2006-01-01T00:00:00Z