Works matching IS 09646906 AND DT 2018 AND VI 27 AND IP 11

Results: 14

Quantitative proteomics reveals neuronal ubiquitination of Rngo/Ddi1 and several proteasomal subunits by Ube3a, accounting for the complexity of Angelman syndrome.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 11, p. 1955, doi. 10.1093/hmg/ddy103

By:

Ramirez, Juanma;
Lectez, Benoit;
Osinalde, Nerea;
Sivá, Monika;
Elu, Nagore;
Aloria, Kerman;
Procházková, Michaela;
Perez, Coralia;
Martínez-Hernández, Jose;
Barrio, Rosa;
Šašková, Klá ra Grantz;
Arizmendi, Jesus M.;
Mayor, Ugo

Publication type:

Article

Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 11, p. 1913, doi. 10.1093/hmg/ddy098

By:

Anlu Chen;
Dov Tiosano;
Tulay Guran;
Baris, Hagit N.;
Bayram, Yavuz;
Mory, Adi;
Shapiro-Kulnane, Laura;
Hodges, Craig A.;
Akdemir, Zeynep C.;
Turan, Serap;
Jhangiani, Shalini N.;
van den Akker, Focco;
Hoppel, Charles L.;
Salz, Helen K.;
Lupski, James R.;
Buchner, David A.

Publication type:

Article

Molecular partners of hNOT/ALG3, the human counterpart of the Drosophila NOT and yeast ALG3 gene, suggest its involvement in distinct cellular processes relevant to congenital disorders of glycosylation, cancer, neurodegeneration and a variety of further pathologies

Published in:

Human Molecular Genetics, 2018, v. 27, n. 11, p. 1858, doi. 10.1093/hmg/ddy087

By:

Hacker, Benedikt;
Schultheiß, Christoph;
Döring, Michael;
Kurzik-Dumke, Ursula

Publication type:

Article

Genetic variants in autism-related CNTNAP2 impair axonal growth of cortical neurons.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 11, p. 1941, doi. 10.1093/hmg/ddy102

By:

Canali, Giorgia;
Garcia, Marta;
Hivert, Bruno;
Pinatel, Delphine;
Goullancourt, Aline;
Oguievetskaia, Ksenia;
Saint-Martin, Margaux;
Girault, Jean-Antoine;
Faivre-Sarrailh, Catherine;
Goutebroze, Laurence

Publication type:

Article

Genome-wide association study identifies nine novel loci for 2D:4D finger ratio, a putative retrospective biomarker of testosterone exposure in utero.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 11, p. 2025, doi. 10.1093/hmg/ddy121

By:

Warrington, Nicole M.;
Shevroja, Enisa;
Hemani, Gibran;
Hysi, Pirro G.;
Yunxuan Jiang;
Auton, Adam;
Boer, Cindy G.;
Mangino, Massimo;
Wang, Carol A.;
Kemp, John P.;
McMahon, George;
Medina-Gomez, Carolina;
Hickey, Martha;
Trajanoska, Katerina;
Wolke, Dieter;
Arfan Ikram, M.;
Montgomery, Grant W.;
Felix, Janine F.;
Wright, Margaret J.;
Mackey, David A.

Publication type:

Article

Leber's hereditary optic neuropathy (LHON)-associated ND5 12338T >C mutation altered the assembly and function of complex I, apoptosis and mitophagy.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 11, p. 1999, doi. 10.1093/hmg/ddy107

By:

Juanjuan Zhang;
Yanchun Ji;
Yuanyuan Lu;
Runing Fu;
Man Xu;
Xiaoling Liu;
Min-Xin Guan

Publication type:

Article

Ift172 conditional knock-out mice exhibit rapid retinal degeneration and protein trafficking defects.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 11, p. 2012, doi. 10.1093/hmg/ddy109

By:

Gupta, Priya R.;
Pendse, Nachiket;
Greenwald, Scott H.;
Leon, Mihoko;
Qin Liu;
Pierce, Eric A.;
Bujakowska, Kinga M.

Publication type:

Article

Loss-of-function mutations in FGF8 can be independent risk factors for holoprosencephaly.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 11, p. 1989, doi. 10.1093/hmg/ddy106

By:

Sungkook Hong;
Ping Hu;
Roessler, Erich;
Tommy Hu;
Muenke, Maximilian

Publication type:

Article

Acid ceramidase inhibition ameliorates α-synuclein accumulation upon loss of GBA1 function.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 11, p. 1972, doi. 10.1093/hmg/ddy105

By:

Myung Jong Kim;
Jeon, Sohee;
Burbulla, Lena F.;
Krainc, Dimitri

Publication type:

Article

Increased polyamines as protective disease modifiers in congenital muscular dystrophy.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 11, p. 1905, doi. 10.1093/hmg/ddy097

By:

Kemaladewi, D. U.;
Benjamin, J. S.;
Hyatt, E.;
Ivakine, E. A.;
Cohn, R. D.

Publication type:

Article

Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 11, p. 1892, doi. 10.1093/hmg/ddy096

By:

Sferra, Antonella;
Fattori, Fabiana;
Rizza, Teresa;
Flex, Elsabetta;
Bellacchio, Emanuele;
Bruselles, Alessandro;
Petrini, Stefania;
Cecchetti, Serena;
Teson, Massimo;
Restaldi, Fabrizia;
Ciolfi, Andrea;
Santorelli, Filippo M.;
Zanni, Ginevra;
Barresi, Sabina;
Castiglioni, Claudia;
Tartaglia, Marco;
Bertini, Enrico

Publication type:

Article

MIR137 schizophrenia-associated locus controls synaptic function by regulating synaptogenesis, synapse maturation and synaptic transmission.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 11, p. 1879, doi. 10.1093/hmg/ddy089

By:

Enqi He;
Gonzalez Lozano, Miguel A.;
Stringer, Sven;
Watanabe, Kyoko;
Sakamoto, Kensuke;
den Oudsten, Frank;
Koopmans, Frank;
Giamberardino, Stephanie N.;
Hammerschlag, Anke;
Cornelisse, L. Niels;
Ka Wan Li;
van Weering, Jan;
Posthuma, Danielle;
Smit, August B.;
Sullivan, Patrick F.;
Verhage, Matthijs

Publication type:

Article

SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 11, p. 1927, doi. 10.1093/hmg/ddy101

By:

Bryant, Dale;
Yang Liu;
Datta, Sanchari;
Hariri, Hanaa;
Seda, Marian;
Anderson, Glenn;
Peskett, Emma;
Demetriou, Charalambos;
Sousa, Sergio;
Jenkins, Dagan;
Clayton, Peter;
Bitner-Glindzicz, Maria;
Moore, Gudrun E.;
Henne, W. Mike;
Stanier, Philip

Publication type:

Article

Dysregulation of TBX1 dosage in the anterior heart field results in congenital heart disease resembling the 22q11.2 duplication syndrome.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 11, p. 1847, doi. 10.1093/hmg/ddy078

By:

Hasten, Erica;
McDonald-McGinn, Donna M.;
Crowley, Terrence B.;
Zackai, Elaine;
Emanuel, Beverly S.;
Morrow, Bernice E.;
Racedo, Silvia E.

Publication type:

Article