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

Anna-Kaisa Anttonen; Ibrahim Mahjneh; Riikka Hämäläinen; Clotilde Lagier-Tourenne; Outi Kopra; Laura Waris; Mikko Anttonen; Tarja Joensuu; Hannu Olavi Kalimo; Anders Paetau; Lisbeth Tranebjaerg; Denys Chaigne; Michel Koenig; Orvar Eeg-Olofsson; Bjarne Udd; Mirja Somer; Hannu Somer; Anna-Elina Lehesjoki

doi:10.1038/ng1677

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

Anna-Kaisa Anttonen, Ibrahim Mahjneh, Riikka Hämäläinen, Clotilde Lagier-Tourenne, Outi Kopra, Laura Waris, Mikko Anttonen, Tarja Joensuu, Hannu Olavi Kalimo, Anders Paetau, Lisbeth Tranebjaerg, Denys Chaigne, Michel Koenig, Orvar Eeg-Olofsson, Bjarne Udd, Mirja Somer, Hannu Somer, Anna-Elina Lehesjoki

Tutkimustuotos: Artikkelijulkaisu › Artikkeli › Tieteellinen › vertaisarvioitu

Abstrakti

We identified the gene underlying Marinesco-Sjogren syndrome, which is characterized by cerebellar ataxia, progressive myopathy and cataracts. We identified four disease-associated, predicted loss-of-function mutations in SIL1, which encodes a nucleotide exchange factor for the heat-shock protein 70 (HSP70) chaperone HSPA5. These data, together with the similar spatial and temporal patterns of tissue expression of Sil1 and Hspa5, suggest that disturbed SIL1-HSPA5 interaction and protein folding is the primary pathology in Marinesco-Sjogren syndrome.

Alkuperäiskieli	englanti
Lehti	Nature Genetics
Vuosikerta	37
Sivut	1309-1311
Sivumäärä	3
ISSN	1061-4036
DOI - pysyväislinkit	https://doi.org/10.1038/ng1677
Tila	Julkaistu - 2005
OKM-julkaisutyyppi	A1 Alkuperäisartikkeli tieteellisessä aikakauslehdessä, vertaisarvioitu

Tieteenalat

311 Peruslääketieteet
118 Biotieteet
515 Psykologia

Pääsy asiakirjaan

10.1038/ng1677

Siteeraa tätä

Anttonen, A-K., Mahjneh, I., Hämäläinen, R., Lagier-Tourenne, C., Kopra, O., Waris, L., Anttonen, M., Joensuu, T., Kalimo, H. O., Paetau, A., Tranebjaerg, L., Chaigne, D., Koenig, M., Eeg-Olofsson, O., Udd, B., Somer, M., Somer, H., & Lehesjoki, A-E. (2005). The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone. Nature Genetics, 37, 1309-1311. https://doi.org/10.1038/ng1677

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title = "The gene disrupted in Marinesco-Sj{\"o}gren syndrome encodes SIL1, an HSPA5 cochaperone",

abstract = "We identified the gene underlying Marinesco-Sjogren syndrome, which is characterized by cerebellar ataxia, progressive myopathy and cataracts. We identified four disease-associated, predicted loss-of-function mutations in SIL1, which encodes a nucleotide exchange factor for the heat-shock protein 70 (HSP70) chaperone HSPA5. These data, together with the similar spatial and temporal patterns of tissue expression of Sil1 and Hspa5, suggest that disturbed SIL1-HSPA5 interaction and protein folding is the primary pathology in Marinesco-Sjogren syndrome.",

keywords = "311 Basic medicine, 118 Biological sciences, 515 Psychology",

author = "Anna-Kaisa Anttonen and Ibrahim Mahjneh and Riikka H{\"a}m{\"a}l{\"a}inen and Clotilde Lagier-Tourenne and Outi Kopra and Laura Waris and Mikko Anttonen and Tarja Joensuu and Kalimo, {Hannu Olavi} and Anders Paetau and Lisbeth Tranebjaerg and Denys Chaigne and Michel Koenig and Orvar Eeg-Olofsson and Bjarne Udd and Mirja Somer and Hannu Somer and Anna-Elina Lehesjoki",

year = "2005",

doi = "10.1038/ng1677",

language = "English",

volume = "37",

pages = "1309--1311",

journal = "Nature Genetics",

issn = "1061-4036",

publisher = "Nature Publishing Group",

}

Anttonen, A-K, Mahjneh, I, Hämäläinen, R, Lagier-Tourenne, C, Kopra, O, Waris, L, Anttonen, M , Joensuu, T, Kalimo, HO, Paetau, A, Tranebjaerg, L, Chaigne, D, Koenig, M, Eeg-Olofsson, O, Udd, B, Somer, M, Somer, H & Lehesjoki, A-E 2005, 'The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone', Nature Genetics, Vuosikerta 37, Sivut 1309-1311. https://doi.org/10.1038/ng1677

TY - JOUR

T1 - The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone

AU - Anttonen, Anna-Kaisa

AU - Mahjneh, Ibrahim

AU - Hämäläinen, Riikka

AU - Lagier-Tourenne, Clotilde

AU - Kopra, Outi

AU - Waris, Laura

AU - Anttonen, Mikko

AU - Joensuu, Tarja

AU - Kalimo, Hannu Olavi

AU - Paetau, Anders

AU - Tranebjaerg, Lisbeth

AU - Chaigne, Denys

AU - Koenig, Michel

AU - Eeg-Olofsson, Orvar

AU - Udd, Bjarne

AU - Somer, Mirja

AU - Somer, Hannu

AU - Lehesjoki, Anna-Elina

PY - 2005

Y1 - 2005

N2 - We identified the gene underlying Marinesco-Sjogren syndrome, which is characterized by cerebellar ataxia, progressive myopathy and cataracts. We identified four disease-associated, predicted loss-of-function mutations in SIL1, which encodes a nucleotide exchange factor for the heat-shock protein 70 (HSP70) chaperone HSPA5. These data, together with the similar spatial and temporal patterns of tissue expression of Sil1 and Hspa5, suggest that disturbed SIL1-HSPA5 interaction and protein folding is the primary pathology in Marinesco-Sjogren syndrome.

AB - We identified the gene underlying Marinesco-Sjogren syndrome, which is characterized by cerebellar ataxia, progressive myopathy and cataracts. We identified four disease-associated, predicted loss-of-function mutations in SIL1, which encodes a nucleotide exchange factor for the heat-shock protein 70 (HSP70) chaperone HSPA5. These data, together with the similar spatial and temporal patterns of tissue expression of Sil1 and Hspa5, suggest that disturbed SIL1-HSPA5 interaction and protein folding is the primary pathology in Marinesco-Sjogren syndrome.

KW - 311 Basic medicine

KW - 118 Biological sciences

KW - 515 Psychology

U2 - 10.1038/ng1677

DO - 10.1038/ng1677

M3 - Article

VL - 37

SP - 1309

EP - 1311

JO - Nature Genetics

JF - Nature Genetics

SN - 1061-4036

ER -