The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone

Nature Genetics

Volumn 37, Issue 12, 2005, Pages 1309-1311

  Anttonen, Anna Kaisa ^a   Mahjneh, Ibrahim ^b,c   Hämäläinen, Riikka H ^a   Lagier Tourenne, Clotilde ^d   Kopra, Outi ^a,e   Waris, Laura ^a   Anttonen, Mikko ^a   Joensuu, Tarja ^a   Kalimo, Hannu ^a   Paetau, Anders ^a   Tranebjaerg, Lisbeth ^f,g,h   Chaigne, Denys ⁱ   Koenig, Michel ^c   Eeg Olofsson, Orvar ^j   Udd, Bjarne ^a,k,l   Somer, Mirja ^m   Somer, Hannu ^a   Lehesjoki, Anna Elina ^a  

^a UNIVERSITY OF HELSINKI   (Finland)

^b Pietarsaari Hospital   (Finland)

^c UNIVERSITY OF OULU   (Finland)

^d INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

^e Department of Molecular Medicine ^*  (Finland)

^f UNIVERSITY HOSPITAL OF NORTH NORWAY   (Norway)

^g BISPEBJERG HOSPITAL   (Denmark)

^h UNIVERSITY OF COPENHAGEN   (Denmark)

ⁱ Clinique Sainte Odile   (France)

^j UPPSALA UNIVERSITY   (Sweden)

^k VAASA CENTRAL HOSPITAL   (Finland)

^l TAMPERE UNIVERSITY HOSPITAL   (Finland)

^m Vaestoliitto   (Finland)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CHAPERONE; HEAT SHOCK PROTEIN; HEAT SHOCK PROTEIN 70; HEAT SHOCK PROTEIN A 5; INTERLEUKIN 1 RECEPTOR; UNCLASSIFIED DRUG;

ARTICLE; CATARACT; CEREBELLAR ATAXIA; CONTROLLED STUDY; DISEASE ASSOCIATION; GENE DISRUPTION; GENE IDENTIFICATION; GENE MUTATION; HETEROZYGOSITY LOSS; HUMAN; LINKAGE ANALYSIS; MARINESCO SJOGREN SYNDROME; MYOPATHY; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; PREDICTION; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FOLDING; PROTEIN PROTEIN INTERACTION;

FINLAND; GENE DELETION; GUANINE NUCLEOTIDE EXCHANGE FACTORS; HEAT-SHOCK PROTEINS; HUMANS; MOLECULAR CHAPERONES; MUSCLE, SKELETAL; MUTATION; PROTEIN FOLDING; PROTEINS; SPINOCEREBELLAR DEGENERATIONS;

ATAXIA;

EID: 28444474185     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng1677     Document Type: Article

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