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Titolo:
An introduction: Oxidative phosphorylation diseases
Autore:
Shoffner, JM;
Indirizzi:
Horizon Mol Med, Norcross, GA 30092 USA Horizon Mol Med Norcross GA USA 30092 zon Mol Med, Norcross, GA 30092 USA
Titolo Testata:
SEMINARS IN NEUROLOGY
fascicolo: 3, volume: 21, anno: 2001,
pagine: 237 - 250
SICI:
0271-8235(2001)21:3<237:AIOPD>2.0.ZU;2-T
Fonte:
ISI
Lingua:
ENG
Soggetto:
MITOCHONDRIAL-DNA DELETION; STROKE-LIKE EPISODES; KEARNS-SAYRE-SYNDROME; RAGGED-RED FIBERS; PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; CYTOCHROME-C-OXIDASE; MULTIPLE SYMMETRICAL LIPOMATOSIS; COMPLEX-I DEFICIENCY; GASTROINTESTINAL ENCEPHALOPATHY SYNDROME; DEPENDENT DIABETES-MELLITUS;
Keywords:
mitochondrial disease; oxidative phosphorylation; autosomal dominant mitochondrial disease; autosomal recessive mitochondrial disease; mitochondrial DNA mutations; mitochondrial DNA;
Tipo documento:
Review
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
276
Recensione:
Indirizzi per estratti:
Indirizzo: Shoffner, JM Horizon Mol Med, 4855 Peachtree Ind Blvd, Norcross, GA 30092 USA Horizon Mol Med 4855 Peachtree Ind Blvd Norcross GA USA 30092
Citazione:
J.M. Shoffner, "An introduction: Oxidative phosphorylation diseases", SEM NEUROL, 21(3), 2001, pp. 237-250

Abstract

Oxidative phosphorylation (OXPHOS) is responsible for producing much of the adenosine triphosphate that is required by cells. The OXPHOS pathway incorporates over 100 polypeptides whose genes are located in either the nuclear DNA or the mitochondrial DNA (mtDNA). The expression of these genes and the assembly of the five OXPHOS enzyme complexes (complexes I to V) is a highly ordered and coordinated process. A broad array of human diseases resultfrom mutations in either the nuclear or mtDNA genes or even in the systemsthat coordinate their interactions. Consequently, OXPHOS diseases can havecomplex inheritance patterns and a wide spectrum of clinical presentations.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 30/03/20 alle ore 20:01:25