Kristian Tveten

Kristian Tveten

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Kristian Tveten

Kristian Tveten

Publications by authors named "Kristian Tveten"

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27Publications

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De novo substitutions of TRPM3 cause intellectual disability and epilepsy.

Eur J Hum Genet 2019 Oct 5;27(10):1611-1618. Epub 2019 Jul 5.

Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.

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http://dx.doi.org/10.1038/s41431-019-0462-xDOI Listing
October 2019

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Authors:
Benjamin Cogné Sophie Ehresmann Eliane Beauregard-Lacroix Justine Rousseau Thomas Besnard Thomas Garcia Slavé Petrovski Shiri Avni Kirsty McWalter Patrick R Blackburn Stephan J Sanders Kévin Uguen Jacqueline Harris Julie S Cohen Moira Blyth Anna Lehman Jonathan Berg Mindy H Li Usha Kini Shelagh Joss Charlotte von der Lippe Christopher T Gordon Jennifer B Humberson Laurie Robak Daryl A Scott Vernon R Sutton Cara M Skraban Jennifer J Johnston Annapurna Poduri Magnus Nordenskjöld Vandana Shashi Erica H Gerkes Ernie M H F Bongers Christian Gilissen Yuri A Zarate Malin Kvarnung Kevin P Lally Peggy A Kulch Brina Daniels Andres Hernandez-Garcia Nicholas Stong Julie McGaughran Kyle Retterer Kristian Tveten Jennifer Sullivan Madeleine R Geisheker Asbjorg Stray-Pedersen Jennifer M Tarpinian Eric W Klee Julie C Sapp Jacob Zyskind Øystein L Holla Emma Bedoukian Francesca Filippini Anne Guimier Arnaud Picard Øyvind L Busk Jaya Punetha Rolph Pfundt Anna Lindstrand Ann Nordgren Fayth Kalb Megha Desai Ashley Harmon Ebanks Shalini N Jhangiani Tammie Dewan Zeynep H Coban Akdemir Aida Telegrafi Elaine H Zackai Amber Begtrup Xiaofei Song Annick Toutain Ingrid M Wentzensen Sylvie Odent Dominique Bonneau Xénia Latypova Wallid Deb Sylvia Redon Frédéric Bilan Marine Legendre Caitlin Troyer Kerri Whitlock Oana Caluseriu Marine I Murphree Pavel N Pichurin Katherine Agre Ralitza Gavrilova Tuula Rinne Meredith Park Catherine Shain Erin L Heinzen Rui Xiao Jeanne Amiel Stanislas Lyonnet Bertrand Isidor Leslie G Biesecker Dan Lowenstein Jennifer E Posey Anne-Sophie Denommé-Pichon Claude Férec Xiang-Jiao Yang Jill A Rosenfeld Brigitte Gilbert-Dussardier Séverine Audebert-Bellanger Richard Redon Holly A F Stessman Christoffer Nellaker Yaping Yang James R Lupski David B Goldstein Evan E Eichler Francois Bolduc Stéphane Bézieau Sébastien Küry Philippe M Campeau

Am J Hum Genet 2019 Mar 28;104(3):530-541. Epub 2019 Feb 28.

Centre Hospitalier Universitaire Sainte-Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada; Department of Pediatrics, University of Montreal, Montreal, QC H3T1J4, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.01.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407527PMC
March 2019

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

Authors:
Sébastien Küry Geeske M van Woerden Thomas Besnard Martina Proietti Onori Xénia Latypova Meghan C Towne Megan T Cho Trine E Prescott Melissa A Ploeg Stephan Sanders Holly A F Stessman Aurora Pujol Ben Distel Laurie A Robak Jonathan A Bernstein Anne-Sophie Denommé-Pichon Gaëtan Lesca Elizabeth A Sellars Jonathan Berg Wilfrid Carré Øyvind Løvold Busk Bregje W M van Bon Jeff L Waugh Matthew Deardorff George E Hoganson Katherine B Bosanko Diana S Johnson Tabib Dabir Øystein Lunde Holla Ajoy Sarkar Kristian Tveten Julitta de Bellescize Geir J Braathen Paulien A Terhal Dorothy K Grange Arie van Haeringen Christina Lam Ghayda Mirzaa Jennifer Burton Elizabeth J Bhoj Jessica Douglas Avni B Santani Addie I Nesbitt Katherine L Helbig Marisa V Andrews Amber Begtrup Sha Tang Koen L I van Gassen Jane Juusola Kimberly Foss Gregory M Enns Ute Moog Katrin Hinderhofer Nagarajan Paramasivam Sharyn Lincoln Brandon H Kusako Pierre Lindenbaum Eric Charpentier Catherine B Nowak Elouan Cherot Thomas Simonet Claudia A L Ruivenkamp Sihoun Hahn Catherine A Brownstein Fan Xia Sébastien Schmitt Wallid Deb Dominique Bonneau Mathilde Nizon Delphine Quinquis Jamel Chelly Gabrielle Rudolf Damien Sanlaville Philippe Parent Brigitte Gilbert-Dussardier Annick Toutain Vernon R Sutton Jenny Thies Lisenka E L M Peart-Vissers Pierre Boisseau Marie Vincent Andreas M Grabrucker Christèle Dubourg Wen-Hann Tan Nienke E Verbeek Martin Granzow Gijs W E Santen Jay Shendure Bertrand Isidor Laurent Pasquier Richard Redon Yaping Yang Matthew W State Tjitske Kleefstra Benjamin Cogné Slavé Petrovski Kyle Retterer Evan E Eichler Jill A Rosenfeld Pankaj B Agrawal Stéphane Bézieau Sylvie Odent Ype Elgersma Sandra Mercier

Am J Hum Genet 2017 Nov;101(5):768-788

CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.

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http://dx.doi.org/10.1016/j.ajhg.2017.10.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673671PMC
November 2017

Clinical exome sequencing – Norwegian findings.

Tidsskr Nor Laegeforen 2015 Nov 3;135(20):1833-7. Epub 2015 Nov 3.

Seksjon for medisinsk genetikk Avdeling for laboratoriemedisin Sykehuset Telemark.

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http://dx.doi.org/10.4045/tidsskr.14.1442DOI Listing
November 2015

Mutation G805R in the transmembrane domain of the LDL receptor gene causes familial hypercholesterolemia by inducing ectodomain cleavage of the LDL receptor in the endoplasmic reticulum.

FEBS Open Bio 2014 19;4:321-7. Epub 2014 Mar 19.

Unit for Cardiac and Cardiovascular Genetics, Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.

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http://dx.doi.org/10.1016/j.fob.2014.03.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4048843PMC
June 2014

PCSK9 acts as a chaperone for the LDL receptor in the endoplasmic reticulum.

Biochem J 2014 Jan;457(1):99-105

*Unit for Cardiac and Cardiovascular Genetics, Department of Medical Genetics, Oslo University Hospital, Oslo N-0464, Norway.

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http://dx.doi.org/10.1042/BJ20130930DOI Listing
January 2014

PCSK9-mediated degradation of the LDL receptor generates a 17 kDa C-terminal LDL receptor fragment.

J Lipid Res 2013 Jun 18;54(6):1560-6. Epub 2013 Mar 18.

Department of Medical Genetics, Oslo University Hospital Rikshospitalet, Oslo, Norway.

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http://dx.doi.org/10.1194/jlr.M034371DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3646457PMC
June 2013

Mutations in the SORT1 gene are unlikely to cause autosomal dominant hypercholesterolemia.

Atherosclerosis 2012 Dec 11;225(2):370-5. Epub 2012 Oct 11.

Unit for Cardiac and Cardiovascular Genetics, Department of Medical Genetics, Oslo University Hospital Rikshospitalet, Oslo, Norway.

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http://dx.doi.org/10.1016/j.atherosclerosis.2012.10.026DOI Listing
December 2012

Interaction between the ligand-binding domain of the LDL receptor and the C-terminal domain of PCSK9 is required for PCSK9 to remain bound to the LDL receptor during endosomal acidification.

Hum Mol Genet 2012 Mar 8;21(6):1402-9. Epub 2011 Dec 8.

Unit for Cardiac and Cardiovascular Genetics, Department of Medical Genetics, Oslo University Hospital Rikshospitalet, Oslo, Norway.

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http://dx.doi.org/10.1093/hmg/ddr578DOI Listing
March 2012

Characterization of a naturally occurring degradation product of the LDL receptor.

Mol Genet Metab 2012 Jan 24;105(1):149-54. Epub 2011 Oct 24.

Unit for Cardiac and Cardiovascular Genetics, Department of Medical Genetics, Oslo University Hospital Rikshospitalet, NO-0027 Oslo, Norway.

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http://dx.doi.org/10.1016/j.ymgme.2011.10.008DOI Listing
January 2012

Characterization of residues in the cytoplasmic domain of the LDL receptor required for exit from the endoplasmic reticulum.

Biochem Biophys Res Commun 2011 Dec 2;415(4):642-5. Epub 2011 Nov 2.

Unit for Cardiac and Cardiovascular Genetics, Department of Medical Genetics, Oslo University Hospital Rikshospitalet, NO-0027 Oslo, Norway.

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http://dx.doi.org/10.1016/j.bbrc.2011.10.127DOI Listing
December 2011

Role of the C-terminal domain of PCSK9 in degradation of the LDL receptors.

J Lipid Res 2011 Oct 19;52(10):1787-94. Epub 2011 Jul 19.

Unit for Cardiac and Cardiovascular Genetics, Department of Medical Genetics, Centre for Molecular Biology and Neuroscience, University of Oslo, Oslo, Norway.

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http://dx.doi.org/10.1194/jlr.M018093DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3173001PMC
October 2011

The cytoplasmic domain is not involved in directing Class 5 mutant LDL receptors to lysosomal degradation.

Biochem Biophys Res Commun 2011 May 21;408(4):642-6. Epub 2011 Apr 21.

Unit for Cardiac and Cardiovascular Genetics, Department of Medical Genetics, Oslo University Hospital Rikshospitalet, Oslo, Norway.

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http://dx.doi.org/10.1016/j.bbrc.2011.04.077DOI Listing
May 2011

Removal of acidic residues of the prodomain of PCSK9 increases its activity towards the LDL receptor.

Biochem Biophys Res Commun 2011 Mar 13;406(2):234-8. Epub 2011 Feb 13.

Unit for Cardiac and Cardiovascular Genetics, Department of Medical Genetics, Oslo, Norway.

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http://dx.doi.org/10.1016/j.bbrc.2011.02.023DOI Listing
March 2011

Disrupted recycling of the low density lipoprotein receptor by PCSK9 is not mediated by residues of the cytoplasmic domain.

Mol Genet Metab 2010 Sep 9;101(1):76-80. Epub 2010 Jun 9.

Medical Genetics Laboratory, Department of Medical Genetics, Oslo University Hospital Rikshospitalet, Oslo, Norway.

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https://linkinghub.elsevier.com/retrieve/pii/S10967192100020
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http://dx.doi.org/10.1016/j.ymgme.2010.05.003DOI Listing
September 2010

Functional analysis of the synonymous R385R mutation in the low-density lipoprotein receptor gene.

Genet Test Mol Biomarkers 2009 Apr;13(2):243-8

Medical Genetics Laboratory, Department of Medical Genetics, Rikshospitalet University Hospital, Oslo, Norway.

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http://dx.doi.org/10.1089/gtmb.2008.0125DOI Listing
April 2009

The effect of bafilomycin A1 and protease inhibitors on the degradation and recycling of a Class 5-mutant LDLR.

Acta Biochim Biophys Sin (Shanghai) 2009 Mar;41(3):246-55

Medical Genetics Laboratory, Department of Medical Genetics, Rikshospitalet University Hospital, N-0027 Oslo, Norway.

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http://dx.doi.org/10.1093/abbs/gmp008DOI Listing
March 2009

4-Phenylbutyrate restores the functionality of a misfolded mutant low-density lipoprotein receptor.

FEBS J 2007 Apr 5;274(8):1881-93. Epub 2007 Mar 5.

Medical Genetics Laboratory, Department of Medical Genetics, Rikshospitalet-Radiumhospitalet Medical Center, Oslo, Norway.

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http://dx.doi.org/10.1111/j.1742-4658.2007.05735.xDOI Listing
April 2007

Analysis of alternatively spliced isoforms of human LDL receptor mRNA.

Clin Chim Acta 2006 Nov 26;373(1-2):151-7. Epub 2006 May 26.

Medical Genetics Laboratory, Department of Medical Genetics, Rikshospitalet-Radiumhospitalet Medical Center, N-0027 Oslo, Norway.

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http://dx.doi.org/10.1016/j.cca.2006.05.031DOI Listing
November 2006