Patients with Gaucher disease display systemic oxidative stress dependent on therapy status

Autor: Reena V. Kartha, Kyle Rudser, Jeanine Jarnes, Neal J. Weinreb, Roland Brown, Marcia R. Terluk, Usha Mishra, James C. Cloyd, Abigail Travis, Heather Lau

Publikováno v: Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 25, Iss, Pp 100667-(2020)

Gaucher disease is an autosomal recessive metabolic disorder caused by mutations in GBA1, which encodes for the lysosomal hydrolase enzyme, β-glucocerebrosidase. The resulting misfolded protein can trigger endoplasmic reticulum stress and an unfolde

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e464387def65fd2c57de493b1cb23aaf
http://europepmc.org/articles/PMC7733024

Characteristics of 26 patients with type 3 Gaucher disease: A descriptive analysis from the Gaucher Outcome Survey

Autor: Zoya Panahloo, Ida Vanessa Doederlein Schwartz, Ari Zimran, Lydie Renault, Ozlem Goker-Alpan, Priya S. Kishnani, Patrick Deegan

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 14, Iss C, Pp 73-79 (2018)
Molecular Genetics and Metabolism Reports

The Gaucher Outcome Survey (GOS) is an international disease-specific registry established in 2010 for patients with a confirmed diagnosis of Gaucher disease (GD), regardless of GD type or treatment status. Historically, there has been a limited unde

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2374faafcaab66d7e6a835cbcf84c57
http://www.sciencedirect.com/science/article/pii/S2214426917301416

Growth charts for patients with Hunter syndrome

Autor: Tsutomu Shimada, Shunji Tomatsu, Eriko Yasuda, Kenji E. Orii, Yasuyuki Suzuki, Miho Maeda, Pravin Patel, Tadao Orii

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 5-18 (2014)
Molecular Genetics and Metabolism Reports

Children with mucopolysaccharidosis II (MPS II), also known as Hunter syndrome, an X-linked disorder, suffer from a multisystem dysfunction caused by the accumulation of glycosaminoglycans. However, there has been no systemic report on the growth of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::356b9c517e4085eb0585bef53140b231
http://www.sciencedirect.com/science/article/pii/S2214426913000037

Understanding and modifying Fabry disease: Rationale and design of a pivotal Phase 3 study and results from a patient-reported outcome validation study.

Autor: Wanner C; Department of Medicine, Division of Nephrology, University Hospital Würzburg, Oberduerrbacher Str. 6, 97080 Würzburg, Germany., Kimonis V; Division of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine, 333 The City Blvd. West, Suite 800, Orange, CA 92868, USA., Politei J; Foundation for the Study of Neurometabolic Diseases, FESEN, Uriarte 2383, C1425 CABA, Buenos Aires, Argentina., Warnock DG; University of Alabama at Birmingham, 1720 University Blvd, Birmingham, AL 35294, USA., Üçeyler N; Department of Neurology, University Hospital of Würzburg, Oberduerrbacher Str. 6, 97080 Würzburg, Germany., Frey A; Idorsia Pharmaceuticals Ltd, Hegenheimermattweg 91, 4123 Allschwil, Switzerland., Cornelisse P; Idorsia Pharmaceuticals Ltd, Hegenheimermattweg 91, 4123 Allschwil, Switzerland., Hughes D; University College London and Royal Free Hospital, Pond Street, London NW3 2QG, United Kingdom.

Publikováno v: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2022 Mar 26; Vol. 31, pp. 100862. Date of Electronic Publication: 2022 Mar 26 (Print Publication: 2022).

Patients with Gaucher disease display systemic oxidative stress dependent on therapy status.

Autor: Kartha RV; Center for Orphan Drug Research, College of Pharmacy, University of Minnesota, Minneapolis, MN 55455, United States.; Department of Experimental and Clinical Pharmacology, College of Pharmacy, University of Minnesota, Minneapolis, MN 55455, United States., Terluk MR; Center for Orphan Drug Research, College of Pharmacy, University of Minnesota, Minneapolis, MN 55455, United States.; Department of Experimental and Clinical Pharmacology, College of Pharmacy, University of Minnesota, Minneapolis, MN 55455, United States., Brown R; Division of Biostatistics, University of Minnesota, Minneapolis, MN 55455, United States., Travis A; Center for Orphan Drug Research, College of Pharmacy, University of Minnesota, Minneapolis, MN 55455, United States.; Department of Experimental and Clinical Pharmacology, College of Pharmacy, University of Minnesota, Minneapolis, MN 55455, United States., Mishra UR; Center for Orphan Drug Research, College of Pharmacy, University of Minnesota, Minneapolis, MN 55455, United States.; Department of Experimental and Clinical Pharmacology, College of Pharmacy, University of Minnesota, Minneapolis, MN 55455, United States., Rudser K; Division of Biostatistics, University of Minnesota, Minneapolis, MN 55455, United States., Lau H; Division of Neurogenetics, Department of Neurology, New York University, New York, NY, United States., Jarnes JR; Department of Experimental and Clinical Pharmacology, College of Pharmacy, University of Minnesota, Minneapolis, MN 55455, United States.; University of Minnesota Medical Center/Fairview Health Systems, Minneapolis, MN 55455, United States., Cloyd JC; Center for Orphan Drug Research, College of Pharmacy, University of Minnesota, Minneapolis, MN 55455, United States.; Department of Experimental and Clinical Pharmacology, College of Pharmacy, University of Minnesota, Minneapolis, MN 55455, United States.; Department of Neurology, University of Minnesota, Minneapolis, MN 55455, United States., Weinreb NJ; Department of Human Genetics and Medicine (Hematology), Leonard Miller School of Medicine of University of Miami, Miami, FL, United States.

Publikováno v: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2020 Dec 09; Vol. 25, pp. 100667. Date of Electronic Publication: 2020 Dec 09 (Print Publication: 2020).