نتایج جستجو برای: melas syndrome

تعداد نتایج: 622265  

Journal: :Human molecular genetics 2006
Marko Kervinen Reetta Hinttala Heli M Helander Sari Kurki Johanna Uusimaa Moshe Finel Kari Majamaa Ilmo E Hassinen

The ND1 subunit gene of the mitochondrial NADH-ubiquinone oxidoreductase (complex I) is a hot spot for mutations causing Leber hereditary optic neuropathy and several mutations causing the mitochondrial encephalopathy, lactic acidosis and stroke-like episodes syndrome (MELAS). We have used Escherichia coli and Paracoccus denitrificans as model systems to study the effect of mutations 3946 and 3...

Journal: :Human molecular genetics 2015
Salvador Meseguer Ana Martínez-Zamora Elena García-Arumí Antonio L Andreu M-Eugenia Armengod

Mitochondrial dysfunction activates mitochondria-to-nucleus signaling pathways whose components are mostly unknown. Identification of these components is important to understand the molecular mechanisms underlying mitochondrial diseases and to discover putative therapeutic targets. MELAS syndrome is a rare neurodegenerative disease caused by mutations in mitochondrial (mt) DNA affecting mt-tRNA...

Journal: :Medical Journal of Australia 2011

2016

Submit Manuscript | http://medcraveonline.com Abbreviations: CPEO: Chronic Progressive External Ophthalmoplegia; KSS: Kearns-Sayre Syndrome; MELAS: Mitochondrial Encephalopathy Lactic Acidosis Stroke-like Episodes; NARP: Neuropathy Ataxia Retinitis Pigmentosa; LHON: Leber’s Hereditary Optic Neuropathy; MERRF: Myoclonic Epilepsy and Ragged Red Fibers; iPSC: Induced Pluripotent Stem Cells; FIAU: ...

Journal: :Journal of Neurology, Neurosurgery & Psychiatry 2000

1997
Marc Rettig

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Journal: :Rinsho shinkeigaku = Clinical neurology 2017
Josef Finsterer

Journal: :Clinical Case Reports and Reviews 2015

Journal: :Journal of medical genetics 2003
M Chol S Lebon P Bénit D Chretien P de Lonlay A Goldenberg S Odent L Hertz-Pannier C Vincent-Delorme V Cormier-Daire P Rustin A Rötig A Munnich

Leigh syndrome is a subacute necrotising encephalomyopathy frequently ascribed to mitochondrial respiratory chain deficiency. This condition is genetically heterogeneous, as mutations in both mitochondrial (mt) and nuclear genes have been reported. Here, we report the G13513A transition in the ND5 mtDNA gene in three unrelated children with complex I deficiency and a peculiar MRI aspect distinc...

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