Works by Goldin, Ehud

Results: 16

Diffuse Neuroaxonal Involvement in Mucolipidosis IV as Assessed by Proton Magnetic Resonance Spectroscopic Imaging.

Published in:

Journal of Child Neurology, 2003, v. 18, n. 7, p. 443, doi. 10.1177/08830738030180070701

By:

Bonavita, Simona;
Virta, Anette;
Jeffries, Neal;
Goldin, Ehud;
Tedeschi, Gioacchino;
Schiffmann, Raphael

Publication type:

Article

Molecular pathophysiology of mucolipidosis type IV: pH dysregulation of the mucolipin-1 cation channel.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 6, p. 617, doi. 10.1093/hmg/ddh067

By:

Raychowdhury, Malay K.;
González-Perrett, Silvia;
Montalbetti, Nicolás;
Timpanaro, Gustavo A.;
Chasan, Bernard;
Goldmann, Wolfgang H.;
Stahl, Stefanie;
Cooney, Adele;
Goldin, Ehud;
Cantiello, Horacio F.

Publication type:

Article

Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 17, p. 2471, doi. 10.1093/hmg/9.17.2471

By:

Sun, Mei;
Goldin, Ehud

Publication type:

Article

Macrophage Models of Gaucher Disease for Evaluating Disease Pathogenesis and Candidate Drugs.

Published in:

Science Translational Medicine, 2014, v. 6, n. 240, p. 1, doi. 10.1126/scitranslmed.3008659

By:

Aflaki, Elma;
Stubblefield, Barbara K.;
Maniwang, Emerson;
Lopez, Grisel;
Moaven, Nima;
Goldin, Ehud;
Marugan, Juan;
Patnaik, Samarjit;
Dutra, Amalia;
Southall, Noel;
Wei Zheng;
Tayebi, Nahid;
Sidransky, Ellen

Publication type:

Article

Insertion of mutant proteolipid protein results in missorting of myelin proteins (This article is a US Government work and, as such, is in the public domain in the United States of America.).

Published in:

Annals of Neurology, 2003, v. 54, n. 6, p. 769

By:

Catherine Vaurs-Barriere;
Kondi Wong;
Thais D. Weibel;
Mones Abu-Asab;
Michael D. Weiss;
Christine R. Kaneski;
Tong-Hui Mixon;
Simona Bonavita;
Isabelle Creveaux;
John D. Heiss;
Maria Tsokos;
Ehud Goldin;
Richard H. Quarles;
Odile Boespflug-Tanguy;
Raphael Schiffmann

Publication type:

Article

Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus.

Published in:

Annals of Neurology, 2002, v. 52, n. 4, p. 506, doi. 10.1002/ana.10339

By:

Fogli, Anne;
Wong, Kondi;
Eymard-Pierre, Eleonore;
Wenger, Jack;
Bouffard, John-Paul;
Goldin, Ehud;
Black, Deborah N.;
Boespflug-Tanguy, Odile;
Schiffmann, Raphael

Publication type:

Article

A high throughput glucocerebrosidase assay using the natural substrate glucosylceramide.

Published in:

Analytical & Bioanalytical Chemistry, 2012, v. 402, n. 2, p. 731, doi. 10.1007/s00216-011-5496-z

By:

Motabar, Omid;
Goldin, Ehud;
Leister, William;
Liu, Ke;
Southall, Noel;
Huang, Wenwei;
Marugan, Juan;
Sidransky, Ellen;
Zheng, Wei

Publication type:

Article

Synthesis and characterization of a new fluorogenic substrate for alpha-galactosidase.

Published in:

Analytical & Bioanalytical Chemistry, 2009, v. 394, n. 7, p. 1903, doi. 10.1007/s00216-009-2879-5

By:

Zhen-Dan Shi;
Motabar, Omid;
Goldin, Ehud;
Ke Liu;
Southall, Noel;
Sidransky, Ellen;
Austin, Christopher P.;
Griffiths, Gary L.;
Wei Zheng

Publication type:

Article

Apoptotic abnormalities in differential gene expression in peripheral blood mononuclear cells from children with Fabry disease.

Published in:

Acta Paediatrica, 2008, p. 48, doi. 10.1111/j.1651-2227.2008.00654.x

By:

Moore, David F.;
Goldin, Ehud;
Gelderman, Monique P.;
Robinson, Chevalia;
Baer, Jessica;
Ries, Markus;
Elkahloun, Abdel;
Brady, Roscoe O.;
Schiffmann, Raphael

Publication type:

Article

Transfer of a mitochondrial DNA fragment to MCOLN1 causes an inherited case of mucolipidosis IV.

Published in:

Human Mutation, 2004, v. 24, n. 6, p. 460, doi. 10.1002/humu.20094

By:

Goldin, Ehud;
Stahl, Stefanie;
Cooney, Adele M.;
Kaneski, Christine R.;
Gupta, Surya;
Brady, Roscoe O.;
Ellis, James R.;
Schiffmann, Raphael

Publication type:

Article

Thromboxane and Prostacyclin Levels in Fetal Rabbit Brain and Placenta After Intrauterine Partial Ischemic Episodes.

Published in:

Journal of Neurochemistry, 1990, v. 54, n. 2, p. 587, doi. 10.1111/j.1471-4159.1990.tb01911.x

By:

Goldin, Ehud;
Harel, Shaul;
Tomer, Abraham;
Yavin, Ephraim

Publication type:

Article

Acute Uteroplacental Ischemic Embryo: Lactic Acid Accumulation and Prostaglandin Production in the Fetal Rat Brain.

Published in:

Journal of Neurochemistry, 1988, v. 51, n. 1, p. 75, doi. 10.1111/j.1471-4159.1988.tb04837.x

By:

Magal, Ella;
Goldin, Ehud;
Harel, Shaul;
Yavin, Ephraim

Publication type:

Article

High Throughput Screening for Small Molecule Therapy for Gaucher Disease Using Patient Tissue as the Source of Mutant Glucocerebrosidase.

Published in:

PLoS ONE, 2012, v. 7, n. 1, p. 1, doi. 10.1371/journal.pone.0029861

By:

Goldin, Ehud;
Wei Zheng;
Motabar, Omid;
Southall, Noel;
Jae Hyuk Choi;
Marugan, Juan;
Austin, Christopher P.;
Sidransky, Ellen

Publication type:

Article

A mutation in SCARB2 is a modifier in gaucher disease.

Published in:

Human Mutation, 2011, v. 32, n. 11, p. 1232, doi. 10.1002/humu.21566

By:

Velayati, Arash;
DePaolo, John;
Gupta, Nidhi;
Choi, Jae H.;
Moaven, Nima;
Westbroek, Wendy;
Goker-Alpan, Ozlem;
Goldin, Ehud;
Stubblefield, Barbara K.;
Kolodny, Edwin;
Tayebi, Nahid;
Sidransky, Ellen

Publication type:

Article

Type C Niemann-Pick Disease: Use of Hydrophobic Amines to Study Defective Cholesterol Transport.

Published in:

Developmental Neuroscience, 1991, v. 13, n. 4/5, p. 315, doi. 10.1159/000112179

By:

Roff, Calvin F.;
Goldin, Ehud;
Comly, Marcella E.;
Cooney, Adele;
Brown, Anthony;
Vanier, Marie T.;
Miller, Stephen P.F.;
Brady, Roscoe O.;
Pentchev, Peter G.

Publication type:

Article

Cloning and characterization of the mouse Mcoln1 gene reveals an alternatively spliced transcript not seen in humans.

Published in:

BMC Genomics, 2002, v. 3, p. 1

By:

Falardeau, John L.;
Kennedy, John C.;
Acierno Jr., James S.;
Mei Sun;
Stahl, Stefanie;
Goldin, Ehud;
Slaugenhaupt, Susan A.

Publication type:

Article