Kalscheuer, Vera M.; Freude, Kristine; Musante, Luciana; Jensen, Lars R.; Yntema, Helger G.; Gecz, Jozef; Sefiani, Abdelaziz; Hoffmann, Kirsten; Moser, Bettina; Haas, Stefan; Gurok, Ulf; Haesler, Sebastian; Aranda, Beatriz; Nshedjan, Arpik; Tzschach, Andreas; Ropers, Hans-Hilger et al:
Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation
In: Nature Genetics, Jg. 35 (2003), Heft 4, S. 313 - 315
2003Artikel/Aufsatz in ZeitschriftOpen Access
Chemie
Damit verbunden: 1 Publikation(en)
Titel in Englisch:
Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation
Autor*in:
Kalscheuer, Vera M.;Freude, Kristine;Musante, Luciana;Jensen, Lars R.;Yntema, Helger G.;Gecz, Jozef;Sefiani, Abdelaziz;Hoffmann, KirstenUDE
LSF ID
3128
Sonstiges
der Hochschule zugeordnete*r Autor*in
;
Moser, Bettina;Haas, Stefan;Gurok, Ulf;Haesler, Sebastian;Aranda, Beatriz;Nshedjan, Arpik;Tzschach, Andreas;Hartmann, NilsUDE
GND
115540466
LSF ID
11099
ORCID
0000-0001-6804-514XORCID iD
Sonstiges
der Hochschule zugeordnete*r Autor*in
;
Roloff, Tim-Christoph;Shoichet, Sarah;Hagens, Olivier;Tao, Jiong;van Bokhoven, Hans;Turner, Gillian;Chelly, Jamel;Moraine, Claude;Fryns, Jean-Pierre;Nuber, Ulrike;Hoeltzenbein, Maria;Scharff, Constance;Scherthan, Harry;Lenzner, Steffen;Hamel, Ben C. J.;Schweiger, Susann;Ropers, Hans-Hilger
Erscheinungsjahr:
2003
Open Access?:
Open Access
Sprache des Textes:
Englisch

Abstract:

The authors found mutations in the gene PQBP1 in 5 of 29 families with nonsyndromic (MRX) and syndromic (MRXS) forms of X-linked mental retardation (XLMR). Clin. features in affected males include mental retardation, microcephaly, short stature, spastic paraplegia and midline defects. PQBP1 has previously been implicated in the pathogenesis of polyglutamine expansion diseases. Our findings link this gene to XLMR and shed more light on the pathogenesis of this common disorder.