Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy
about
Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathyNDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiencyDysfunctions of cellular oxidative metabolism in patients with mutations in the NDUFS1 and NDUFS4 genes of complex IMutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial diseaseA molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy.Mitochondrial geneticsMitochondrial disorders: challenges in diagnosis & treatmentRespiratory chain complex I deficiencyNDUFA2 complex I mutation leads to Leigh diseaseScreening for active small molecules in mitochondrial complex I deficient patient's fibroblasts, reveals AICAR as the most beneficial compoundCentral nervous system manifestations of mitochondrial disorders.The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple familiesMutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus Jews.Proton pumping by NADH:ubiquinone oxidoreductase. A redox driven conformational change mechanism?Targeted exome sequencing for mitochondrial disorders reveals high genetic heterogeneity.Eight proteins play critical roles in RCC with bone metastasis via mitochondrial dysfunctionMitochondriopathies.Diabetes Susceptibility Genes Pdx1 and Clec16a Function in a Pathway Regulating Mitophagy in β-Cells.Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.An overview of chagasic cardiomyopathy: pathogenic importance of oxidative stress.Mitochondrial respiratory complex I: structure, function and implication in human diseases.Mitochondrial diseases: a nosological update.Aging-induced alterations in gene transcripts and functional activity of mitochondrial oxidative phosphorylation complexes in the heartHuman NADH:ubiquinone oxidoreductase deficiency: radical changes in mitochondrial morphology?Molecular diagnostics and mitochondrial dysfunction: a future perspective.Approaches to finding the molecular basis of mitochondrial oxidative phosphorylation disorders.Pathogenic mutations of nuclear genes associated with mitochondrial disorders.Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease.The genetics and pathology of mitochondrial disease.PGC-1 coactivators in cardiac development and diseaseCardiological manifestations of mitochondrial respiratory chain disorders.Novel mutation of ND4 gene identified by targeted next-generation sequencing in patient with Leigh syndrome.Increased resistance of complex I mutants to phytosphingosine-induced programmed cell death.Inherited complex I deficiency is associated with faster protein diffusion in the matrix of moving mitochondria.Redox proteomic identification of HNE-bound mitochondrial proteins in cardiac tissues reveals a systemic effect on energy metabolism after doxorubicin treatment.Prenatal diagnosis of NADH:ubiquinone oxidoreductase deficiency.Neurospora strains harboring mitochondrial disease-associated mutations in iron-sulfur subunits of complex I.beta2- but not beta1-adrenoceptor activation modulates intracellular oxygen availability.A central functional role for the 49-kDa subunit within the catalytic core of mitochondrial complex I.Functional implications from an unexpected position of the 49-kDa subunit of NADH:ubiquinone oxidoreductase.
P2860
Q24302105-FD1D0F92-D8EE-46DF-B2F4-24AC94428990Q24304313-91DBAA5F-125C-4A5E-8C46-5DB7C333891CQ24304454-5B47FF88-15EC-483F-8D9D-B75EB36E1691Q24336408-BE0766C4-F4E7-4179-A25F-CB26E8DCB878Q24536088-7D3A448E-32C6-436B-BA15-739C313EB018Q26849285-54C9F1B7-9958-4004-9969-B845088B4CA4Q27000484-BAE6C17B-EA3C-4893-A2FB-198674DAECE5Q28189572-021BAF39-7FD3-48A6-B4E7-5B55BF66052EQ28282142-58A8263E-1998-4FAE-B8BB-D0F5C13021B8Q28477645-544AD4CB-370A-4ED7-8E40-38ECB62562FAQ31058031-56E87B58-2079-4EB2-B8FF-4C1E26CE6670Q34163172-16922F17-046A-4C3C-80AD-A998ED037D04Q34327036-FB53D421-32CB-4D4D-AA70-F3AF1E88EFA6Q34534253-DAB8BD20-A393-43AC-AAFB-2E5443EDFD45Q35038366-75395223-0EA4-4EDB-9DD3-E196B19889E0Q35675971-A37334F3-7328-4D09-9EC1-29A1F95131D3Q35685889-B1AC11A5-15D4-4A52-BCB8-1A4AB073C501Q36104634-408E4BB1-07F2-43A4-9CA3-84A0693B1FFCQ36203487-BC094DCD-5C5A-4360-BDA6-C4A40B1E2CAFQ36338129-64D1042B-B3A7-4203-B21F-01E89E7FE9CDQ36444688-8C7B4025-CC82-4E65-A92E-0DDDCBAA200AQ36765849-1E5C2F2C-A01B-44B4-A6F9-05D7EBC430F7Q36767004-6727CB5B-7B85-4EAD-86A8-606DEC719D8AQ36788822-B7263847-272E-461B-A42F-B5038E9C7254Q37206274-801FE87F-CB73-4862-A776-254458B6BE6CQ37220086-AD4BD0CE-7D8A-49E4-9C15-8DBDE768126BQ37412986-60442E50-04BB-4478-A423-C0D99E6F0C68Q37428322-F1DFA052-F4F4-4E6C-A918-7A4E34930787Q37560946-AF1D9A89-BB86-415F-814C-F4BEB1E7B211Q37795417-71CC484C-68A1-4A9B-B21E-C0652824CCBDQ37917716-F8245188-6ECD-40D4-B3D0-1C9BE81113E6Q38739621-E49B74A3-1293-44D6-B8ED-A0F963E1CD84Q39680207-46802AA6-E39B-4934-9A29-2E0BB8782423Q40000489-F0F7086E-CC8C-48C5-B077-287CC8256B79Q40578775-222B776C-C69D-46FA-9172-F67B219F89D4Q40672093-46871734-0B13-41D2-A5E5-E39A40F0F2EBQ42708849-8ED389DB-397B-4704-AD20-5061F1D1E244Q43023619-92136FEB-CA95-4C22-BCBA-9A73688170DFQ43600883-573EE0BB-4DD7-4BF5-8560-3DFA6BAED1FAQ44445876-C51396C1-7960-4EF9-8CF6-494D74F7EBFF
P2860
Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy
description
2001 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2001
@ast
im Februar 2001 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 2001/02/01)
@sk
vědecký článek publikovaný v roce 2001
@cs
wetenschappelijk artikel (gepubliceerd op 2001/02/01)
@nl
наукова стаття, опублікована в лютому 2001
@uk
مقالة علمية (نشرت في فبراير 2001)
@ar
name
Mutations in the complex I NDU ...... myopathy and encephalomyopathy
@ast
Mutations in the complex I NDU ...... myopathy and encephalomyopathy
@en
Mutations in the complex I NDU ...... myopathy and encephalomyopathy
@nl
type
label
Mutations in the complex I NDU ...... myopathy and encephalomyopathy
@ast
Mutations in the complex I NDU ...... myopathy and encephalomyopathy
@en
Mutations in the complex I NDU ...... myopathy and encephalomyopathy
@nl
prefLabel
Mutations in the complex I NDU ...... myopathy and encephalomyopathy
@ast
Mutations in the complex I NDU ...... myopathy and encephalomyopathy
@en
Mutations in the complex I NDU ...... myopathy and encephalomyopathy
@nl
P2093
P2860
P1433
P1476
Mutations in the complex I NDU ...... myopathy and encephalomyopathy
@en
P2093
F. Trijbels
J. Loeffen
J. Smeitink
L. van den Heuvel
O. Elpeleg
R. Sengers
S. Stöckler-Ipsiroglu
P2860
P304
P356
10.1002/1531-8249(20010201)49:2<195::AID-ANA39>3.0.CO;2-M
P577
2001-02-01T00:00:00Z