Publications by authors named "Jaakko Sarparanta"

19Publications

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

Authors:
Jaakko Sarparanta Per Harald Jonson Sabita Kawan Bjarne Udd

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.

View Article and Find Full Text PDF
February 2020

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

Authors:
Johanna Palmio Per Harald Jonson Michio Inoue Jaakko Sarparanta Rocio Bengoechea Marco Savarese Anna Vihola Manu Jokela Masanori Nakagawa Satoru Noguchi Montse Olivé Marion Masingue Emilia Kerty Peter Hackman Conrad C Weihl Ichizo Nishino Bjarne Udd

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.

View Article and Find Full Text PDF
January 2020

Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations.

Authors:
Marco Savarese Johanna Palmio Juan José Poza Jan Weinberg Montse Olive Ana Maria Cobo Anna Vihola Per Harald Jonson Jaakko Sarparanta Federico García-Bragado Jon Andoni Urtizberea Peter Hackman Bjarne Udd

Ann Neurol 2019 06 3;85(6):899-906. Epub 2019 Apr 3.

Folkhälsan Research Center, Helsinki, Finland.

View Article and Find Full Text PDF
June 2019

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

Authors:
Miriam Toledo Ana Batista-Gonzalez Emilio Merheb Marie Louise Aoun Elena Tarabra Daorong Feng Jaakko Sarparanta Paola Merlo Francesco Botrè Gary J Schwartz Jeffrey E Pessin Rajat Singh

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:

View Article and Find Full Text PDF
August 2018

TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations.

Authors:
YouJin Lee Per Harald Jonson Jaakko Sarparanta Johanna Palmio Mohona Sarkar Anna Vihola Anni Evilä Tiina Suominen Sini Penttilä Marco Savarese Mridul Johari Marie-Christine Minot David Hilton-Jones Paul Maddison Patrick Chinnery Jens Reimann Cornelia Kornblum Torsten Kraya Stephan Zierz Carolyn Sue Hans Goebel Asim Azfer Stuart H Ralston Peter Hackman Robert C Bucelli J Paul Taylor Conrad C Weihl Bjarne Udd

J Clin Invest 2018 03 19;128(3):1164-1177. Epub 2018 Feb 19.

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

View Article and Find Full Text PDF
March 2018

Increasing Role of Titin Mutations in Neuromuscular Disorders.

Authors:
Marco Savarese Jaakko Sarparanta Anna Vihola Bjarne Udd Peter Hackman

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.

View Article and Find Full Text PDF
August 2016

Autophagy and Mitochondria in Obesity and Type 2 Diabetes.

Authors:
Jaakko Sarparanta Marina García-Macia Rajat Singh

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.

View Article and Find Full Text PDF
September 2018

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

Authors:
Karine Charton Jaakko Sarparanta Anna Vihola Astrid Milic Per Harald Jonson Laurence Suel Helena Luque Imène Boumela Isabelle Richard Bjarne Udd

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.

View Article and Find Full Text PDF
July 2015

Atypical phenotypes in titinopathies explained by second titin mutations.

Authors:
Anni Evilä Anna Vihola Jaakko Sarparanta Olayinka Raheem Johanna Palmio Satu Sandell Bruno Eymard Isabel Illa Ricard Rojas-Garcia Karolina Hankiewicz Luis Negrão Tuija Löppönen Pekka Nokelainen Mikko Kärppä Sini Penttilä Mark Screen Tiina Suominen Isabelle Richard Peter Hackman Bjarne Udd

Ann Neurol 2014 Feb 24;75(2):230-40. Epub 2014 Feb 24.

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

View Article and Find Full Text PDF
February 2014

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

Authors:
Peter Hackman Jaakko Sarparanta Sara Lehtinen Anna Vihola Anni Evilä Per Harald Jonson Helena Luque Juha Kere Mark Screen Patrick F Chinnery Gabrielle Åhlberg Lars Edström Bjarne Udd

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.

View Article and Find Full Text PDF
April 2013

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy.

Authors:
Jaakko Sarparanta Per Harald Jonson Christelle Golzio Satu Sandell Helena Luque Mark Screen Kristin McDonald Jeffrey M Stajich Ibrahim Mahjneh Anna Vihola Olayinka Raheem Sini Penttilä Sara Lehtinen Sanna Huovinen Johanna Palmio Giorgio Tasca Enzo Ricci Peter Hackman Michael Hauser Nicholas Katsanis Bjarne Udd

Nat Genet 2012 Feb 26;44(4):450-5, S1-2. Epub 2012 Feb 26.

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

View Article and Find Full Text PDF
February 2012

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

Authors:
Peter Hackman Satu Sandell Jaakko Sarparanta Helena Luque Sanna Huovinen Johanna Palmio Anders Paetau Hannu Kalimo Ibrahim Mahjneh Bjarne Udd

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.

View Article and Find Full Text PDF
May 2011

Removal of the calpain 3 protease reverses the myopathology in a mouse model for titinopathies.

Authors:
Karine Charton Nathalie Danièle Anna Vihola Carinne Roudaut Evelyne Gicquel François Monjaret Anne Tarrade Jaakko Sarparanta Bjarne Udd Isabelle Richard

Hum Mol Genet 2010 Dec 20;19(23):4608-24. Epub 2010 Sep 20.

Genethon, CNRS UMR8587 LAMBE, 1 rue de l’Internationale, Evry, France.

View Article and Find Full Text PDF
December 2010

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

Authors:
Satu Sandell Sanna Huovinen Jaakko Sarparanta Helena Luque Olayinka Raheem Hannu Haapasalo Peter Hackman Bjarne Udd

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

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

View Article and Find Full Text PDF
August 2010

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

Authors:
Jaakko Sarparanta Gaëlle Blandin Karine Charton Anna Vihola Sylvie Marchand Astrid Milic Peter Hackman Elisabeth Ehler Isabelle Richard Bjarne Udd

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.

View Article and Find Full Text PDF
September 2010

Biology of myospryn: what's known?

Authors:
Jaakko Sarparanta

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.

View Article and Find Full Text PDF
December 2009

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

Authors:
Peter Hackman Sylvie Marchand Jaakko Sarparanta Anna Vihola Isabelle Pénisson-Besnier Bruno Eymard Jose Manuel Pardal-Fernández El-Hadi Hammouda Isabelle Richard Isabel Illa Bjarne Udd

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.

View Article and Find Full Text PDF
December 2008

Constitutive upregulations of titin-based signalling proteins in KY deficient muscles.

Authors:
Jane Beatham Katja Gehmlich Peter F M van der Ven Jaakko Sarparanta Debbie Williams Peter Underhill Christian Geier Dieter O Fürst Bjarne Udd Gonzalo Blanco

Neuromuscul Disord 2006 Jul 30;16(7):437-45. Epub 2006 Jun 30.

MRC Mammalian Genetics Unit, Harwell OX11 0RD, UK.

View Article and Find Full Text PDF
July 2006

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

Authors:
Peter Hackman Anna Vihola Henna Haravuori Sylvie Marchand Jaakko Sarparanta Jerome De Seze Siegfried Labeit Christian Witt Leena Peltonen Isabelle Richard Bjarne Udd

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.

View Article and Find Full Text PDF
September 2002