Počet záznamů: 1
Sequestration of MBNL1 in tissues of patients with myotonic dystrophy type 2
- 1.0380080 - BFÚ 2013 RIV GB eng J - Článek v odborném periodiku
Lukáš, Z. - Falk, Martin - Feit, J. - Souček, O. - Falková, I. - Štefančíková, Lenka - Janoušová, E. - Fajkusová, L. - Zaorálková, J. - Hrabálková, R.
Sequestration of MBNL1 in tissues of patients with myotonic dystrophy type 2.
Neuromuscular Disorders. Roč. 22, č. 7 (2012), s. 604-616. ISSN 0960-8966. E-ISSN 1873-2364
Grant CEP: GA MŠMT(CZ) LD12039; GA AV ČR(CZ) IAA500040802; GA ČR(CZ) GAP302/10/1022; GA ČR GBP302/12/G157
Výzkumný záměr: CEZ:AV0Z50040702
Klíčová slova: myotonic dystrophy * ribonuclear foci * insulin receptor alternative splicing
Kód oboru RIV: BO - Biofyzika
Impakt faktor: 3.464, rok: 2012
Using ImmunoFISH method we show sequestration of MBNL1 protein (in ribonuclear foci) in skeletal muscles and also non-muscle tissues affected in myotonic dystrophy type 2. In adipose tissue, MBNL1 sequestration is accompanied by an altered splicing of the insulin receptor gene, demonstrating that the same (or similar) pathological mechanisms as in the skeletal muscles operate also in non-muscle tissues.
Trvalý link: http://hdl.handle.net/11104/0215384
Počet záznamů: 1