Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Lisa L DiAntonio"'
Autor:
Michael S Marshall, Benas Jakubauskas, Wil Bogue, Monika Stoskute, Zane Hauck, Emily Rue, Matthew Nichols, Lisa L DiAntonio, Richard B van Breemen, Jeffrey H Kordower, Carlos A Saavedra-Matiz, Ernesto R Bongarzone
Publikováno v:
PLoS ONE, Vol 13, Iss 2, p e0193438 (2018)
α-Synuclein aggregation has been linked to Gaucher's disease (GD) and Krabbe's disease (KD), lysosomal conditions affecting glycosphingolipid metabolism. α-Synuclein pathology has been directly attributed to the dysregulation of glycosphingolipids
Externí odkaz:
https://doaj.org/article/82002b21deef48d4b5449c1f7f92f94b
Autor:
Lin N; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY., Huang J; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY., Violante S; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY., Orsini JJ; Laboratory of Human Genetics, New York State Department of Health, Wadsworth Center, Albany, NY., Caggana M; Laboratory of Human Genetics, New York State Department of Health, Wadsworth Center, Albany, NY., Hughes EE; Laboratory of Human Genetics, New York State Department of Health, Wadsworth Center, Albany, NY., Stevens C; Laboratory of Human Genetics, New York State Department of Health, Wadsworth Center, Albany, NY., DiAntonio L; Laboratory of Human Genetics, New York State Department of Health, Wadsworth Center, Albany, NY., Chieh Liao H; Departments of Chemistry and.; Biochemistry, University of Washington, Seattle, WA., Hong X; Departments of Chemistry and.; Biochemistry, University of Washington, Seattle, WA., Ghomashchi F; Departments of Chemistry and.; Biochemistry, University of Washington, Seattle, WA., Babu Kumar A; Departments of Chemistry and.; Biochemistry, University of Washington, Seattle, WA., Zhou H; Newborn Screening Translation Research Initiative, National Foundation for the Centers for Disease Control and Prevention, Inc., Atlanta, GA., Kornreich R; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY., Wasserstein M; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY., Gelb MH; Departments of Chemistry and chunli.yu@mssm.edu gelb@uw.edu.; Biochemistry, University of Washington, Seattle, WA., Yu C; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY; chunli.yu@mssm.edu gelb@uw.edu.
Publikováno v:
Clinical chemistry [Clin Chem] 2017 Apr; Vol. 63 (4), pp. 842-851. Date of Electronic Publication: 2017 Feb 14.
Autor:
Vogel BH; Newborn Screening Program, Wadsworth Center, New York State Department of Health, PO Box 509, Albany, NY, 12201-0509, USA, bmh06@health.state.ny.us., Bonagura V, Weinberg GA, Ballow M, Isabelle J, DiAntonio L, Parker A, Young A, Cunningham-Rundles C, Fong CT, Celestin J, Lehman H, Rubinstein A, Siegel S, Weiner L, Saavedra-Matiz C, Kay DM, Caggana M
Publikováno v:
Journal of clinical immunology [J Clin Immunol] 2014 Apr; Vol. 34 (3), pp. 289-303. Date of Electronic Publication: 2014 Mar 01.
Autor:
Mahadeo KM; Division of Pediatric Hematology/Oncology, Department of Medicine, Albert Einstein College of Medicine, Bronx, NY 10461, USA., Diop-Bove N, Ramirez SI, Cadilla CL, Rivera E, Martin M, Lerner NB, DiAntonio L, Duva S, Santiago-Borrero PJ, Goldman ID
Publikováno v:
The Journal of pediatrics [J Pediatr] 2011 Oct; Vol. 159 (4), pp. 623-7.e1. Date of Electronic Publication: 2011 Apr 13.
Autor:
Pratt VM; Quest Diagnostics, Nichols Institute, Chantilly, Virginia, USA. Victoria.m.pratt@questdiagnostics.com, Caggana M, Bridges C, Buller AM, DiAntonio L, Highsmith WE, Holtegaard LM, Muralidharan K, Rohlfs EM, Tarleton J, Toji L, Barker SD, Kalman LV
Publikováno v:
The Journal of molecular diagnostics : JMD [J Mol Diagn] 2009 May; Vol. 11 (3), pp. 186-93. Date of Electronic Publication: 2009 Apr 09.