Publications by authors named "Jaakko Sarparanta"

19Publications

Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results.

Int J Mol Sci 2020 Feb 19;21(4). Epub 2020 Feb 19.

Folkhälsan Research Center, Helsinki, Finland and Medicum, University of Helsinki, FI-00290 Helsinki, Finland.

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February 2020

Mutations in the J domain of DNAJB6 cause dominant distal myopathy.

Neuromuscul Disord 2020 01 19;30(1):38-46. Epub 2019 Nov 19.

Neuromuscular Research Center, Tampere University Hospital and Tampere University, P.O. box 100, FIN-33014 Tampere, Finland; Folkhälsan Research Center, Helsinki, Finland and University of Helsinki, Medicum, Helsinki, Finland.

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January 2020

Autophagy Regulates the Liver Clock and Glucose Metabolism by Degrading CRY1.

Cell Metab 2018 08 21;28(2):268-281.e4. Epub 2018 Jun 21.

Department of Medicine, Albert Einstein College of Medicine, Bronx, NY 10461, USA; Department of Molecular Pharmacology, Albert Einstein College of Medicine, Bronx, NY 10461, USA; Institute for Aging Research, Albert Einstein College of Medicine, Bronx, NY 10461, USA; Diabetes Research Center, Albert Einstein College of Medicine, Bronx, NY 10461, USA. Electronic address:

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August 2018

Increasing Role of Titin Mutations in Neuromuscular Disorders.

J Neuromuscul Dis 2016 08;3(3):293-308

Folkhälsan Institute of Genetics and Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland.

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August 2016

Autophagy and Mitochondria in Obesity and Type 2 Diabetes.

Curr Diabetes Rev 2017 ;13(4):352-369

Department of Medicine (Endocrinology), and Molecular Pharmacology, Member of the Diabetes Research Center, Albert Einstein College of Medicine, 1300 Morris Park Avenue, Forchheimer Building, Room 505D, Bronx, NY 10461. United States.

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September 2018

CAPN3-mediated processing of C-terminal titin replaced by pathological cleavage in titinopathy.

Hum Mol Genet 2015 Jul 15;24(13):3718-31. Epub 2015 Apr 15.

Department of Medical Genetics, Folkhälsan Institute of Genetics, University of Helsinki, Helsinki, Finland, Neuromuscular Research Center, Tampere University Hospital and University of Tampere, Tampere, Finland and Department of Neurology, Vaasa Central Hospital, Vaasa, Finland.

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July 2015

Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1.

Ann Neurol 2013 Apr 11;73(4):500-9. Epub 2013 Feb 11.

Folkhälsan Institute of Genetics and Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland.

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April 2013

Four new Finnish families with LGMD1D; refinement of the clinical phenotype and the linked 7q36 locus.

Neuromuscul Disord 2011 May 3;21(5):338-44. Epub 2011 Mar 3.

Folkhälsan Institute of Genetics and Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland.

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May 2011

The enigma of 7q36 linked autosomal dominant limb girdle muscular dystrophy.

J Neurol Neurosurg Psychiatry 2010 Aug;81(8):834-9

Department of Neurology, Seinäjoki Central Hospital, Seinäjoki, Finland.

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August 2010

Interactions with M-band titin and calpain 3 link myospryn (CMYA5) to tibial and limb-girdle muscular dystrophies.

J Biol Chem 2010 Sep 15;285(39):30304-15. Epub 2010 Jul 15.

Department of Medical Genetics, Folkhälsan Institute of Genetics, University of Helsinki, 00014 Helsinki, Finland.

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September 2010

Biology of myospryn: what's known?

J Muscle Res Cell Motil 2008 13;29(6-8):177-80. Epub 2009 Jan 13.

Folkhälsan Institute of Genetics and Department of Medical Genetics, University of Helsinki, Helsinki, Finland.

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December 2009

Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD).

Neuromuscul Disord 2008 Dec 22;18(12):922-8. Epub 2008 Oct 22.

Folkhälsan Institute of Genetics, Department of Medical Genetics, University of Helsinki, Haartmaninkatu 8, Pb 63, 00014 Helsinki, Finland.

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December 2008

Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin.

Am J Hum Genet 2002 Sep 26;71(3):492-500. Epub 2002 Jul 26.

Department of Medical Genetics and The Folkhälsan Institute of Genetics, University of Helsinki, Helsinki, Finland.

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September 2002