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Titolo:
A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation
Autore:
Hulkova, H; Cervenkova, M; Ledvinova, J; Tochackova, M; Hrebicek, M; Poupetova, H; Befekadu, A; Berna, L; Paton, BC; Harzer, K; Boor, A; Smid, F; Elleder, M;
Indirizzi:
Charles Univ, Fac Med 1, Inst Inherited Medab Disorders, Prague 12808 2, Czech Republic Charles Univ Prague Czech Republic 12808 2 rague 12808 2, Czech Republic Charles Univ, Fac Med 1, Inst Pathol, Prague 12808 2, Czech Republic Charles Univ Prague Czech Republic 12808 2 rague 12808 2, Czech Republic Womens & Childrens Hosp, Dept Chem Pathol, Adelaide, SA 5006, Australia Womens & Childrens Hosp Adelaide SA Australia 5006 de, SA 5006, Australia Univ Tubingen, Inst Brain Res, D-72070 Tubingen, Germany Univ Tubingen Tubingen Germany D-72070 in Res, D-72070 Tubingen, Germany Safarik Univ, Inst Pathol, Fac Med, Kosice, Slovakia Safarik Univ KosiceSlovakia iv, Inst Pathol, Fac Med, Kosice, Slovakia Charles Univ, Fac Med 1, Clin Dept Haematol & Nephrol, Dept Med 1, Prague 12808 2, Czech Republic Charles Univ Prague Czech Republic 12808 2 rague 12808 2, Czech Republic
Titolo Testata:
HUMAN MOLECULAR GENETICS
fascicolo: 9, volume: 10, anno: 2001,
pagine: 927 - 940
SICI:
0964-6906(20010415)10:9<927:ANMITC>2.0.ZU;2-X
Fonte:
ISI
Lingua:
ENG
Soggetto:
DISEASE TYPE-C; THIN-LAYER CHROMATOGRAPHY; ACTIVATOR PROTEIN GENE; METACHROMATIC LEUKODYSTROPHY; MESSENGER-RNA; SAP-PRECURSOR; GAUCHER-DISEASE; SULFATIDE ACTIVATOR; NEUROTROPHIC FACTOR; FABRYS-DISEASE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
93
Recensione:
Indirizzi per estratti:
Indirizzo: Elleder, M Charles Univ, Fac Med 1, Inst Inherited Medab Disorders, Ke Karlovu 2,BldgD,Div B, Prague 12808 2, Czech Republic Charles Univ Ke Karlovu 2,Bldg D,Div B Prague Czech Republic 12808 2
Citazione:
H. Hulkova et al., "A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation", HUM MOL GEN, 10(9), 2001, pp. 927-940

Abstract

A fatal infantile storage disorder with hepatosplenomegaly and severe neurological disease is described. Sphingolipids, including monohexosylceramides (mainly glucosylceramide), dihexosylceramides (mainly lactosylceramide), globotriaosyl ceramide, sulphatides, ceramides and globotetraosyl ceramide,were stored in the tissues. In general, cholesterol and sphingomyelin levels were unaltered. The storage process was generalized and affected a number of cell types, with histiocytes, which infiltrated a number of visceral organs and the brain, especially involved. The ultrastructure of the storagelysosomes was membranous with oligolamellar, mainly vesicular, profiles. Infrequently, there were Gaucher-like lysosomes in histiocytes. The neuropathology was severe and featured neuronal storage and loss with a massive depopulation of cortical neurons and pronounced fibrillary astrocytosis, Therewas a paucity of myelin and stainable axons in the white matter with signsof active demyelination. Immunohistochemical investigations indicated thatsaposins A, B, C and D were all deficient, The patient was homozygous for a 1 bp deletion (c.803delG) within the SAP-B domain of the prosaposin gene which leads to a frameshift and premature stop codon, In the heterozygous parents, mutant cDNA was detected by amplification refractory mutation analysis in the nuclear, but not the cytoplasmic, fraction of fibroblast RNA, indicating that the mutant mRNA was rapidly degraded. The storage process in the proband resembled that of a published case from an unrelated family. Saposins were also deficient in this case, leading to its reclassification asprosaposin deficiency, and her mother was found to be a carrier for the same c.803delG mutation. Both of the investigated families came from the samedistrict of eastern Slovakia.

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Documento generato il 30/03/20 alle ore 13:26:43