Results 81 to 90 of about 20,780 (190)

Abnormal gangliosides in Tay-Sachs disease, Niemann-Pick's disease, and gargoylism

Journal of Lipid Research, 1966
The molar ratios of N-acetyl neuraminic acid, hexose, hexosamine, and sphingosine have been determined for the abnormal ganglioside in Tay-Sachs disease that was previously detected as a fast-moving band in thin-layer chromatography, and in two abnormal ...
D.A. Booth, H. Goodwin, J.N. Cumings
doaj   +1 more source

New Approaches to Correcting Metabolic Errors in Tay-Sachs [PDF]

, 2016
Tay-Sachs Disease (TSD) is a neurodegenerative disorder categorized as both a gangliosidosis and a lysosomal storage disease. Tay-Sachs is caused by a deficiency in the enzyme ?-hexosaminidase A (Hex A).
Stefanski, Katherin
core   +1 more source

Temporary Efficacy of Pyrimethamine in Juvenile-Onset Tay-Sachs Disease Caused by 2 Unreported HEXA Mutations in the Indian Population

Child Neurology Open, 2017
Background: Juvenile Tay-Sachs disease is rarer than other forms of Tay-Sachs disease and is usually seen in children between the age of 2 and 10 years. Pyrimethamine as a pharmacological chaperone was used to increase β-hexosaminidase A activity in this
A. Udwadia-Hegde, Omkar Hajirnis
semanticscholar   +1 more source

Prospective parents' views on reproductive genetic carrier screening: “You know better, you do better”

Journal of Genetic Counseling, Volume 34, Issue 4, August 2025.
Abstract Reproductive genetic carrier screening (RGCS) allows screening for hundreds of autosomal recessive and X‐linked conditions. Multiple clinical professional bodies recommend that RGCS be offered to all prospective parents. There is some research into attitudes to targeted carrier screening for conditions common in specific populations.
Chaya M. Goldman, Sharon Lewis, John Massie, Edwin P. Kirk, Allison Symons, Martin B. Delatycki   +5 more
wiley   +1 more source

Construction of a hybrid β-hexosaminidase subunit capable of forming stable homodimers that hydrolyze GM2 ganglioside in vivo

Molecular Therapy: Methods & Clinical Development, 2016
Tay-Sachs or Sandhoff disease result from mutations in either the evolutionarily related HEXA or HEXB genes encoding respectively, the α- or β-subunits of β-hexosaminidase A (HexA). Of the three Hex isozymes, only HexA can interact with its cofactor, the
Michael B Tropak, Sayuri Yonekawa, Subha Karumuthil-Melethil, Patrick Thompson, Warren Wakarchuk, Steven J Gray, Jagdeep S Walia, Brian L Mark, Don Mahuran   +8 more
doaj   +1 more source

Ariel - Volume 5 Number 3 [PDF]

, 1972
Editor J.D. Kanofsky Entertainment Editors Robert Breckenridge Gary Kaskey Overseas Editor Mike Sinason Staff Ken Jaffe Bob Sklaroff Janet Weish David Jacoby Circulation Editor Jay Amsterdam Humorist Jim ...
Browning, Clifford, Conti, Joe, Dembert, Mark, Kanofsky, J.D., Mackie, Dery, Morgan, A. James, Nimoityn, Philip, Sinason, Mike   +7 more
core   +1 more source

Incidental Identification of Potentially Affected Individuals Through Expanded Carrier Screening During Preconception or Early Pregnancy

Prenatal Diagnosis, Volume 45, Issue 9, Page 1151-1159, August 2025.
ABSTRACT Objective Expanded carrier screening (ECS) is used to assess the reproductive probability of having an offspring affected by an autosomal recessive or X‐linked recessive genetic disorder. Rarely, a presumably healthy individual may be identified to carry variants that could influence their health.
Yan Lü, Jiazhen Chang, Yulin Jiang, Xiya Zhou, Na Hao, Yiqing Yu, Mengmeng Li, Kaili Yin, Xueting Yang, Qingwei Qi   +9 more
wiley   +1 more source

Induced Pluripotent Stem Cells for the Treatment of Lysosomal Storage Disorders

Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.
ABSTRACT Lysosomal disorders (LSDs) are a group of rare metabolic disorders, with an overall incidence of 1:4800 to 1:8000 live births. LSDs are primarily caused by dysfunctional lysosomal enzymes, which typically lead to the progressive accumulation of substrates within cellular lysosomes.
Maryann Lorino, Bei Qiu, Brian Bigger
wiley   +1 more source

Intracerebroventricular administration of a modified hexosaminidase ameliorates late-stage neurodegeneration in a GM2 mouse model.

PLoS ONE
The GM2 gangliosidoses, Tay-Sachs disease and Sandhoff disease, are devastating neurodegenerative disorders caused by β-hexosaminidase A (HexA) deficiency.
Manuel E Lopez, Daniel Wendt, Roger Lawrence, Kerui Gong, Hoonsan Ong, Bryan Yip, Joseph Chen, Linley Mangini, Britta Handyside, Alexander Giaramita, Aashish Lamichhane, Melanie Lo, Vishal Agrawal, Jeremy Van Vleet, Amanda Abolhesn, Jessica B Felix, Isaac Villalpando, Vikas Bhat, Rolando De Angelis, Yuanbin Ru, Ayesha Khan, Sylvia Fong, Terri Christianson, Sherry Bullens, Brett E Crawford, Stuart Bunting, Mika Aoyagi-Scharber   +26 more
doaj   +1 more source

Adolescents' and young adults' reactions to and perceived utility of carrier screening results in the context of a genomic research study

Journal of Genetic Counseling, Volume 34, Issue 3, June 2025.
Abstract Although guidelines have historically recommended deferring decisions about learning genomic information for conditions not actionable in childhood until adulthood, youth have increasing access to personal genomic information through research, clinical, and direct‐to‐consumer testing. However, little is known about young people's reactions to,
Haley N. Grimes, Michelle L. McGowan, Jessica A. Sinclair, Cynthia A. Prows, Ellen A. Lipstein, Melanie F. Myers   +5 more
wiley   +1 more source