Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy
about
Calpain 10: a mitochondrial calpain and its role in calcium-induced mitochondrial dysfunctionA molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy.Roles of Pyruvate, NADH, and Mitochondrial Complex I in Redox Balance and Imbalance in β Cell Function and DysfunctionMitochondrial geneticsComplex I deficiency due to selective loss of Ndufs4 in the mouse heart results in severe hypertrophic cardiomyopathyNDUFA2 complex I mutation leads to Leigh diseaseNeuroanatomical pattern of mitochondrial complex I pathology varies between schizophrenia, bipolar disorder and major depression.Methyl donor deficiency induces cardiomyopathy through altered methylation/acetylation of PGC-1α by PRMT1 and SIRT1.Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus Jews.Mitochondrial targeting of human NADH dehydrogenase (ubiquinone) flavoprotein 2 (NDUFV2) and its association with early-onset hypertrophic cardiomyopathy and encephalopathy.An update on complex I assembly: the assembly of players.Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.Detection of Placental Proteomes at Different Uterine Positions in Large White and Meishan Gilts on Gestational Day 90.Maternal nutrition modulates fetal development by inducing placental efficiency changes in gilts.Mitochondrial respiratory complex I: structure, function and implication in human diseases.NecroX-5 protects mitochondrial oxidative phosphorylation capacity and preserves PGC1α expression levels during hypoxia/reoxygenation injuryMitochondrial 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?Genetic Relationship between Schizophrenia and Nicotine Dependence.Molecular diagnostics and mitochondrial dysfunction: a future perspective.Approaches to finding the molecular basis of mitochondrial oxidative phosphorylation disorders.Targeting insect mitochondrial complex I for plant protection.Pathogenic mutations of nuclear genes associated with mitochondrial disorders.Mitochondrial proteomic profiling reveals increased carbonic anhydrase II in aging and neurodegeneration.Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease.The genetics and pathology of mitochondrial disease.The molecular basis of human complex I deficiency.Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical, and Neuroradiologic Features in a Patient Harboring a NDUFA10 Mutation.Evidence of Altered Mitochondrial Protein Expression After Chronic Ethanol Consumption in the Aged Estrogen-Deficient Female Rat Heart.Erythrocytosis in hepatocellular carcinoma portends poor prognosis by respiratory dysfunction secondary to mitochondrial DNA mutations.The antioxidant Trolox restores mitochondrial membrane potential and Ca2+ -stimulated ATP production in human complex I deficiency.Inherited complex I deficiency is associated with faster protein diffusion in the matrix of moving mitochondria.Acute and chronic mitochondrial respiratory chain deficiency differentially regulate lysosomal biogenesis.Beneficial effects of resveratrol on respiratory chain defects in patients' fibroblasts involve estrogen receptor and estrogen-related receptor alpha signaling.Neurospora strains harboring mitochondrial disease-associated mutations in iron-sulfur subunits of complex I.Hypertrophic Cardiomyopathy due to Mitochondrial Disease: Prenatal Diagnosis, Management, and OutcomeA novel mutation in NDUFS4 causes Leigh syndrome in an Ashkenazi Jewish family.Evaluation of mitochondrial bioenergetics, dynamics, endoplasmic reticulum-mitochondria crosstalk, and reactive oxygen species in fibroblasts from patients with complex I deficiency.Identification of homocysteine-suppressive mitochondrial ETC complex genes and tissue expression profile - Novel hypothesis establishment.
P2860
Q24294402-3119BB91-0418-4A54-9CAD-BB025C25356CQ24536088-242963B4-FBCB-446F-80F6-172C96C3EAE8Q26777039-158853B0-19B8-4EA5-9E95-F3E54B2BA742Q26849285-2BDEB691-82C8-4CBE-81AF-D4A206713CF8Q27342864-5ED18E35-660C-41C2-B820-49E30D0C0912Q28282142-CE44D92B-F6BC-49CE-A1ED-AA3C91F0A097Q33383204-0B2E00A9-1395-4610-AA8A-CF4C6B6685A3Q33919914-C8EBB98F-5B7E-4EE4-B39B-AD1873EC6D4DQ34327036-6D7C6E4F-5831-4986-A212-29676C0D4537Q35052904-DA20CAF7-3293-40C8-8328-B5437800253DQ35547747-90C27FB5-22DA-4888-93DF-7BCD4AAEFBDBQ36203487-E36ED1C9-3BEE-446B-8EF7-9629126DD404Q36218125-AF4DD2ED-A664-4291-9391-33D9C674E790Q36293069-5B86CA83-BDEE-4ABD-8543-174F734AB133Q36444688-430A2122-28BD-4A0F-BC5E-80190634C767Q36627621-F92AE5FF-59C6-4407-9C5E-D02FC46B5133Q36765849-5A132943-EFD1-4DD2-828A-B2B7E5DDF443Q36767004-EBA87F1D-BE2B-4361-9A8A-97C6954F926AQ36788822-FBAFF205-5682-43D1-B3CE-763D5BA7BC50Q36887530-13A579D9-297C-4C0A-8A90-C88AA2E1BD22Q37206274-8A8C9B93-5E50-4154-BA6F-595C3E269A1FQ37220086-59DCB15E-F223-4DE2-ACD1-A7B1862281ABQ37349039-6251CB16-F634-4E77-8D62-4D345E1E4BF9Q37412986-84499288-D07C-4DE7-962A-96428CDFB6BEQ37423536-4839230F-D0C3-42E8-AD5E-EE41CF89AE71Q37428322-F16F4F97-60BC-4B35-9610-0584A1C7CA83Q37560946-6AE3AA09-D0EA-4A7A-A793-812B6B24B36BQ37902119-E9E35151-0602-4B49-A69C-65B6FED49A60Q38752156-6E9774F8-F1D1-4938-B951-BA6AE3464FC5Q38764604-0205CFF1-11F5-4A9C-97D8-1AEC1985C344Q39256165-7A7D505B-56EF-457D-B20A-BFC940AFB53EQ39545676-D34509E5-98B8-42DB-BE76-455ACCA3DD6BQ40000489-B7E35DE4-E0B0-448A-92F3-C22B2F2427B5Q41928343-ED44B69D-795F-4E8F-95CF-601F8135FD41Q42707781-C8589C98-B601-47F6-A525-65DE1FFDD6A6Q42708849-60421B17-B9E0-48C3-B9AE-1AAEC92AF560Q42848380-16AA15B7-2BC2-4105-ADF9-B192E29D2EB4Q45817648-64DF28C4-78D0-4DF2-BA17-5DFBD6050EC9Q47653326-D597BB99-32D5-4799-AE8F-55927834F4BDQ52313611-F28DAE18-5DF9-4CA5-A2F1-F10894205155
P2860
Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy
description
2003 nî lūn-bûn
@nan
2003 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Mutant NDUFV2 subunit of mitoc ...... diomyopathy and encephalopathy
@ast
Mutant NDUFV2 subunit of mitoc ...... diomyopathy and encephalopathy
@en
Mutant NDUFV2 subunit of mitoc ...... diomyopathy and encephalopathy
@en-gb
Mutant NDUFV2 subunit of mitoc ...... diomyopathy and encephalopathy
@nl
type
label
Mutant NDUFV2 subunit of mitoc ...... diomyopathy and encephalopathy
@ast
Mutant NDUFV2 subunit of mitoc ...... diomyopathy and encephalopathy
@en
Mutant NDUFV2 subunit of mitoc ...... diomyopathy and encephalopathy
@en-gb
Mutant NDUFV2 subunit of mitoc ...... diomyopathy and encephalopathy
@nl
prefLabel
Mutant NDUFV2 subunit of mitoc ...... diomyopathy and encephalopathy
@ast
Mutant NDUFV2 subunit of mitoc ...... diomyopathy and encephalopathy
@en
Mutant NDUFV2 subunit of mitoc ...... diomyopathy and encephalopathy
@en-gb
Mutant NDUFV2 subunit of mitoc ...... diomyopathy and encephalopathy
@nl
P2093
P2860
P50
P921
P3181
P356
P1433
P1476
Mutant NDUFV2 subunit of mitoc ...... diomyopathy and encephalopathy
@en
P2093
Irina Giurgea
Jean-Paul Issartel
Marisol Corral-Debrinski
Pascale De Lonlay-Debeney
Réjane Beugnot
Stefan Kerscher
P2860
P3181
P356
10.1002/HUMU.10225
P407
P577
2003-06-01T00:00:00Z