About: A novel deficiency of mitochondrial ATPase of nuclear origin

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About: A novel deficiency of mitochondrial ATPase of nuclear origin Goto Sponge NotDistinct Permalink

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Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована в жовтні 1999 (uk) article scientifique publié en 1999 (fr) im Oktober 1999 veröffentlichter wissenschaftlicher Artikel (de)
publication date	wds:Q57848093-C77D67A1-A41D-43FB-A108-B59BBAB12979 wds:Q57848093-E5815976-2F94-4D95-AA46-9B43D9143B04
publication date	1999-10-01 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q57848093-A9AB7EEF-15A3-4B31-8FD7-752DF380A084
language of work or name	English
author name string	wds:Q57848093-01167694-1F20-490D-BD14-BBEB6F331ECE wds:Q57848093-18593A6E-7A66-4CEF-9D55-CE1D26E79696 wds:Q57848093-23969376-71BC-447C-9B38-51FCFF6BD0E5 wds:Q57848093-5A5B3659-F4F1-4112-9216-28A04398C9F9 wds:Q57848093-68941B6C-473D-45FE-98A9-C9616F0B8538 wds:Q57848093-814939C8-2BD7-4167-BC10-1DDC1B228851 wds:Q57848093-88DF313C-C44A-4BAC-9A84-59B627743222 wds:Q57848093-892D8412-D379-49E4-90A2-20550D4D8554 wds:Q57848093-8AB8483E-BBD3-4E42-B193-BC20E481F646 wds:Q57848093-A5027324-4EAE-41BC-ABE1-C146F5FB4108 wds:Q57848093-B1E43416-EC9A-488B-8D98-9AB79528E961 wds:Q57848093-B3FB57E2-319F-4DDC-B9A2-2FCD0AB14E0B wds:Q57848093-BA2FA1E6-13CC-4B5D-843A-2A15152DCF78 wds:Q57848093-F0F1F4CA-F0DC-4BE7-A3FC-9C438B76D4BF
author name string	S Kmoch H Hansíková J Zeman S K Chowdhury P Klement J Houstek L Stratilová M Kalous D Floryk H Antonická H Hout'ková J Hermanská J Houtek T Rosipal
rdfs:label	A novel deficiency of mitochondrial ATPase of nuclear origin (en) A novel deficiency of mitochondrial ATPase of nuclear origin (nl)
skos:prefLabel	A novel deficiency of mitochondrial ATPase of nuclear origin (en) A novel deficiency of mitochondrial ATPase of nuclear origin (nl)
name	A novel deficiency of mitochondrial ATPase of nuclear origin (en) A novel deficiency of mitochondrial ATPase of nuclear origin (nl)
title	wds:Q57848093-F9A14890-85BE-487D-8135-5D1B67D6DA53
title	A novel deficiency of mitochondrial ATPase of nuclear origin (en)
page(s)	wds:Q57848093-39A9ADBA-3B07-47CB-9C8A-C9CBC2F2307E wds:Q57848093-645F9F67-FEE5-4A41-995A-E3A3567742FD
page(s)	1967-1974 1967-74
instance of	wds:Q57848093-DC211BBD-8088-4430-9F63-89CCEAC9E654
instance of	scholarly article
main subject	wds:Q57848093-03037B85-D865-44A6-807F-75C673E07A78
main subject	mitochondrion
PubMed ID	wds:Q57848093-2CE3F882-3D9E-4728-A4DA-67F1AC8269FF
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/10484764
PubMed ID	10484764
published in	wds:Q57848093-BEB633A1-56C2-4EB3-A7A2-E117E82EDB58
published in	Human Molecular Genetics
issue	wds:Q57848093-90D8E8F2-351D-40A2-A729-426B7C6E9850
volume	wds:Q57848093-95F78327-658A-4EA5-ACA5-11E2967D7942
issue	11
volume	8
DOI	wds:Q57848093-B09F2670-0F3F-45E6-9908-EE929B8B88F4
DOI	http://dx.doi.org/10.1093/HMG/8.11.1967
DOI	10.1093/HMG/8.11.1967
is owl:sameAs of	A novel deficiency of mitochondrial ATPase of nuclear origin
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q57848093
is cites work of	Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated F1Fo ATP synthase deficiency. Activities of mitochondrial oxidative phosphorylation enzymes in cultured amniocytes Atp11p and Atp12p are assembly factors for the F(1)-ATPase in human mitochondria Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy TMEM70 deficiency: long-term outcome of 48 patients Aldose reductase mediates myocardial ischemia-reperfusion injury in part by opening mitochondrial permeability transition pore Mitochondrial respiratory chain deficiency in Caenorhabditis elegans results in developmental arrest and increased life span White matter involvement in mitochondrial diseases Measurement of ATP production in mitochondrial disorders Primary myopathies and the heart Knockout of Tmem70 alters biogenesis of ATP synthase and leads to embryonal lethality in mice. Mitochondrial Membrane Potential and ATP Production in Primary Disorders of ATP Synthase Genetic inhibition of an ATP synthase subunit extends lifespan in C. elegans Reduced respiratory control with ADP and changed pattern of respiratory chain enzymes as a result of selective deficiency of the mitochondrial ATP synthase TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis. Regulation of mitochondrial ATP synthase in cardiac pathophysiology Human diseases associated with defects in assembly of OXPHOS complexes
is cites work of	wds:Q24324788-583F9A8C-DF17-4441-82EC-1F7CE40EB070 wds:Q57847919-F5F5D134-AAE9-40CE-AE03-E557A086E64E wds:Q57032017-B6F98811-7A02-4894-BF6E-4F1F23C72C17 wds:Q44904954-B1ED2BF5-F08A-4840-B618-D19C09FED177 wds:Q47979884-048A1A60-B570-4CF8-BF2A-D3391767E36E wds:Q57175222-2C21C90D-F9BF-483F-B5E8-81F5D405D407 wds:Q37100186-DFAA18B9-3C2F-4D63-87B8-AA3F0419731D wds:Q24291338-E2605613-6812-4E82-A335-8560171CEE2D wds:Q28081828-EB28A31D-195B-49CE-AA62-35D7248779F0 wds:Q30981330-B33BFAA3-9CFD-4896-8B03-64099633C033 wds:Q73943201-338AE150-81E6-4764-BC4D-C410FB8DC797 wds:Q33316556-E4BF41A0-180D-4348-97B1-2903F395C55E wds:Q24309170-A0678999-26F7-4558-9351-E0E1387FE978 wds:Q41929215-B60DB6CF-63B8-438B-A180-8FD94B79DD5B

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