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Titolo:
Oxidative phosphorylation disease diagnosis
Autore:
Shoffner, JM;
Indirizzi:
Ctr Healthcare Atlanta, Mol Med Lab, New York, NY 10001 USA Ctr HealthcareAtlanta New York NY USA 10001 Lab, New York, NY 10001 USA
Titolo Testata:
SEMINARS IN NEUROLOGY
fascicolo: 4, volume: 19, anno: 1999,
pagine: 341 - 351
SICI:
0271-8235(1999)19:4<341:OPDD>2.0.ZU;2-L
Fonte:
ISI
Lingua:
ENG
Soggetto:
HEREDITARY OPTIC NEUROPATHY; CYTOCHROME-C-OXIDASE; OCULOGASTROINTESTINAL MUSCULAR-DYSTROPHY; INHERITED MITOCHONDRIAL MYOPATHY; KEARNS-SAYRE SYNDROME; LEIGH-SYNDROME; MULTIPLE DELETIONS; MYOCLONIC EPILEPSY; LACTIC-ACIDOSIS; MTDNA MUTATION;
Keywords:
oxidative phosphorylation; mitochondrial DNA; Kearns-Sayre syndrome; chronic progressive external ophthalmoplegia; myoclonic epilepsy and ragged red fiber disease; mitochondrial encephalomyopathy; lactic acidosis and stroke-like episodes (MELAS); Leigh disease; Leber hereditary optic neuropathy; cerebellar ataxia; mtDNA depletion; myoneurogastrointestinal disorder and encephalopathy (MNGIE); Wolfram syndrome; hereditary spastic paraplegia with ragged-red fiber myopathy; Friedreich ataxia; Wilson disease;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
91
Recensione:
Indirizzi per estratti:
Indirizzo: Shoffner, JM Ctr Healthcare Atlanta, Mol Med Lab, 5455 Meridian Mark Rd NE,Suite 530, New York, NY 10001 USA Ctr Healthcare Atlanta 5455 Meridian Mark Rd NE,Suite 530 New York NY USA 10001
Citazione:
J.M. Shoffner, "Oxidative phosphorylation disease diagnosis", SEM NEUROL, 19(4), 1999, pp. 341-351

Abstract

Although the mitochondrial (mtDNA) encodes only 13 polypeptide subunits ofthe oxidative phosphorylation (OXPHOS) enzymes, approximately 1,000 proteins are estimated to be necessary for proper OXPHOS function. Over the past ten years, a wide variety of adult and pediatric OXPHOS diseases were foundto be caused by or associated with mtDNA mutations and nuclear DNA mutations. These advances enhanced the ability to definitively diagnose patients, develop management plans, and provide genetic counseling. However, in most individuals, diagnosing OXPHOS diseases is difficult and depends on assessing complex data derived from clinical, neuroradiologic, metabolic, biochemical, and pathologic evaluations. As understanding of nuclear OXPHOS genes grows, a more coherent approach to diagnosis, management, and treatment is likely to emerge. This article reviews major classes of OXPHOS diseases, a diagnostic algorithm, and recent advances in this complex field.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 15/07/20 alle ore 08:07:11