Works matching IS 09646906 AND DT 2019 AND VI 28 AND IP 11

Results: 15

Neuroprotective effects of PACAP against paraquat-induced oxidative stress in the Drosophila central nervous system.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 11, p. 1905, doi. 10.1093/hmg/ddz031

By:

Hajji, Khadija;
Mteyrek, Ali;
Sun, Jun;
Cassar, Marlène;
Mezghani, Sana;
Leprince, Jérôme;
Vaudry, David;
Masmoudi-Kouki, Olfa;
Birman, Serge

Publication type:

Article

GBA haploinsufficiency accelerates alpha-synuclein pathology with altered lipid metabolism in a prodromal model of Parkinson's disease.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 11, p. 1894, doi. 10.1093/hmg/ddz030

By:

Ikuno, Masashi;
Yamakado, Hodaka;
Akiyama, Hisako;
Parajuli, Laxmi Kumar;
Taguchi, Katsutoshi;
Hara, Junko;
Uemura, Norihito;
Hatanaka, Yusuke;
Higaki, Katsumi;
Ohno, Kousaku;
Tanaka, Masaki;
Koike, Masato;
Hirabayashi, Yoshio;
Takahashi, Ryosuke

Publication type:

Article

Quantitative reduction of RyR1 protein caused by a single-allele frameshift mutation in RYR1 ex36 impairs the strength of adult skeletal muscle fibres.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 11, p. 1872, doi. 10.1093/hmg/ddz025

By:

Elbaz, Moran;
Ruiz, Alexis;
Eckhardt, Jan;
Pelczar, Pawel;
Muntoni, Francesco;
Boncompagni, Simona;
Treves, Susan;
Zorzato, Francesco

Publication type:

Article

Pre-clinical evaluation of cysteamine bitartrate as a therapeutic agent for mitochondrial respiratory chain disease.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 11, p. 1837, doi. 10.1093/hmg/ddz023

By:

Guha, Sujay;
Konkwo, Chigoziri;
Lavorato, Manuela;
Mathew, Neal D;
Peng, Min;
Ostrovsky, Julian;
Kwon, Young-Joon;
Polyak, Erzsebet;
Lightfoot, Richard;
Seiler, Christoph;
Xiao, Rui;
Bennett, Michael;
Zhang, Zhe;
Nakamaru-Ogiso, Eiko;
Falk, Marni J

Publication type:

Article

Novel germline STK11 variants and breast cancer phenotype identified in an Indian cohort of Peutz–Jeghers syndrome.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 11, p. 1885, doi. 10.1093/hmg/ddz027

By:

Lipsa, Anuja;
Kowtal, Pradnya;
Sarin, Rajiv

Publication type:

Article

Nonsense-mediated mRNA decay efficiency varies in choroideremia providing a target to boost small molecule therapeutics.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 11, p. 1865, doi. 10.1093/hmg/ddz028

By:

Sarkar, Hajrah;
Mitsios, Andreas;
Smart, Matthew;
Skinner, Jane;
Welch, Ailsa A;
Kalatzis, Vasiliki;
Coffey, Peter J;
Dubis, Adam M;
Webster, Andrew R;
Moosajee, Mariya

Publication type:

Article

MFN2 mutations in Charcot–Marie–Tooth disease alter mitochondria-associated ER membrane function but do not impair bioenergetics.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 11, p. 1782, doi. 10.1093/hmg/ddz008

By:

Larrea, Delfina;
Pera, Marta;
Gonnelli, Adriano;
Quintana–Cabrera, Rubén;
Akman, H Orhan;
Guardia-Laguarta, Cristina;
Velasco, Kevin R;
Area-Gomez, Estela;
Bello, Federica Dal;
Stefani, Diego De;
Horvath, Rita;
Shy, Michael E;
Schon, Eric A;
Giacomello, Marta

Publication type:

Article

Nearly complete deletion of BubR1 causes microcephaly through shortened mitosis and massive cell death.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 11, p. 1822, doi. 10.1093/hmg/ddz022

By:

Simmons, Ambrosia J;
Park, Raehee;
Sterling, Noelle A;
Jang, Mi-Hyeon;
Deursen, Jan M A van;
Yen, Timothy J;
Cho, Seo-Hee;
Kim, Seonhee

Publication type:

Article

Homozygous hydroxymethylbilane synthase knock-in mice provide pathogenic insights into the severe neurological impairments present in human homozygous dominant acute intermittent porphyria.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 11, p. 1755, doi. 10.1093/hmg/ddz003

By:

Yasuda, Makiko;
Gan, Lin;
Chen, Brenden;
Yu, Chunli;
Zhang, Jinglan;
Gama-Sosa, Miguel A;
Pollak, Daniela D;
Berger, Stefanie;
Phillips, John D;
Edelmann, Winfried;
Desnick, Robert J

Publication type:

Article

effect of mutant GBA1 on accumulation and aggregation of α -synuclein.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 11, p. 1768, doi. 10.1093/hmg/ddz005

By:

Maor, Gali;
Rapaport, Debora;
Horowitz, Mia

Publication type:

Article

Corrigendum: Persistent upregulation of the β-tubulin tubb6, linked to muscle regeneration, is a source of microtubule disorganization in dystrophic muscle.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 11, p. 1930, doi. 10.1093/hmg/ddz035

By:

Randazzo, Davide;
Khalique, Umara;
Belanto, Joseph J;
Kenea, Aster;
Talsness, Dana M;
Olthoff, John T;
Tran, Michelle D;
Zaal, Kristien J;
Pak, Katherine;
Pinal-Fernandez, Iago;
Mammen, Andrew L;
Sackett, Dan;
Ervasti, James M;
Ralston, Evelyn

Publication type:

Article

homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1 -related osteogenesis imperfecta.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 11, p. 1801, doi. 10.1093/hmg/ddz017

By:

Guillemyn, Brecht;
Kayserili, Hülya;
Demuynck, Lynn;
Sips, Patrick;
Paepe, Anne De;
Syx, Delfien;
Coucke, Paul J;
Malfait, Fransiska;
Symoens, Sofie

Publication type:

Article

Evolutionary redesign of the lysosomal enzyme arylsulfatase A increases efficacy of enzyme replacement therapy for metachromatic leukodystrophy.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 11, p. 1810, doi. 10.1093/hmg/ddz020

By:

Simonis, Heidi;
Yaghootfam, Claudia;
Sylvester, Marc;
Gieselmann, Volkmar;
Matzner, Ulrich

Publication type:

Article

Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 11, p. 1919, doi. 10.1093/hmg/ddz032

By:

Hedberg-Oldfors, Carola;
Abramsson, Alexandra;
Osborn, Daniel P S;
Danielsson, Olof;
Fazlinezhad, Afsoon;
Nilipour, Yalda;
Hübbert, Laila;
Nennesmo, Inger;
Visuttijai, Kittichate;
Bharj, Jaipreet;
Petropoulou, Evmorfia;
Shoreim, Azza;
Vona, Barbara;
Ahangari, Najmeh;
López, Marcela Dávila;
Doosti, Mohammad;
Banote, Rakesh Kumar;
Maroofian, Reza;
Edling, Malin;
Taherpour, Mehdi

Publication type:

Article

Bi-allelic AEBP1 mutations in two patients with Ehlers–Danlos syndrome.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 11, p. 1853, doi. 10.1093/hmg/ddz024

By:

Syx, Delfien;
Wandele, Inge De;
Symoens, Sofie;
Rycke, Riet De;
Hougrand, Olivier;
Voermans, Nicol;
Paepe, Anne De;
Malfait, Fransiska

Publication type:

Article