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Titolo:
FIC1 disease: A spectrum of intrahepatic cholestatic disorders
Autore:
van Mil, SWC; Klomp, LWJ; Bull, LN; Houwen, RHJ;
Indirizzi:
Univ Utrecht, Med Ctr, Dept Pediat Gastroenterol, NL-3584 CH Utrecht, Netherlands Univ Utrecht Utrecht Netherlands NL-3584 CH 3584 CH Utrecht, Netherlands Univ Utrecht, Med Ctr, Dept Metab Dis, NL-3584 CH Utrecht, Netherlands Univ Utrecht Utrecht Netherlands NL-3584 CH 3584 CH Utrecht, Netherlands Univ Calif San Francisco, San Francisco Gen Hosp, Liver Ctr Lab, San Francisco, CA 94143 USA Univ Calif San Francisco San Francisco CA USA 94143 ancisco, CA 94143 USA
Titolo Testata:
SEMINARS IN LIVER DISEASE
fascicolo: 4, volume: 21, anno: 2001,
pagine: 535 - 544
SICI:
0272-8087(2001)21:4<535:FDASOI>2.0.ZU;2-Q
Fonte:
ISI
Lingua:
ENG
Soggetto:
P-TYPE ATPASES; BILE-ACID METABOLISM; COPPER-TRANSPORTING ATPASE; GREENLAND ESKIMO CHILDREN; SALT EXPORT PUMP; WILSON DISEASE; CANDIDATE GENE; NUCLEAR RECEPTOR; BYLERS-DISEASE; MENKES DISEASE;
Keywords:
FIC1 disease; cholestasis; bile acid secretion; P-type ATPases;
Tipo documento:
Review
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
100
Recensione:
Indirizzi per estratti:
Indirizzo: Houwen, RHJ Univ Utrecht, Wilhelmina Childrens Hosp, Med Ctr, Dept Pediat Gastroenterol, Room KE-01-147-0,Lundlaan 6, NL-3584 AE Utrecht, NetherlandsUniv Utrecht Room KE-01-147-0,Lundlaan 6 Utrecht Netherlands NL-3584 AE
Citazione:
S.W.C. van Mil et al., "FIC1 disease: A spectrum of intrahepatic cholestatic disorders", SEM LIV DIS, 21(4), 2001, pp. 535-544

Abstract

FIC1 disease collectively refers to a group of autosomal-recessive familial liver disorders characterized by intrahepatic cholestasis due to mutations in the ATP8B1 gene (initially named FIC1). Classically, FIC1 disease comprises two different disorders: progressive familial intrahepatic cholestasis type 1 (PFIC1) and benign recurrent intrahepatic cholestasis (BRIC). However, we now view these two disorders as two ends of a continuum. Current therapeutic strategies for FIC1 disease, both medical and surgical, may relieve symptoms, but are presently insufficiently evaluated. ATP8B1 encodes a protein belonging to a recently defined subfamily of P-type ATPases. The biochemical and cellular functions of its product, FIC1, and the mechanisms bywhich its absence or dysfunction leads to cholestasis are currently elusive. Further studies to elucidate FIC1's function will be essential to unravel the pathogenesis of FIC1 disease. Such studies will also have a general impact on our understanding of the molecular mechanisms of bile formation and may therefore improve clinical management of both hereditary and acquiredforms of cholestasis.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 07/07/20 alle ore 12:36:19