Results 71 to 80 of about 20,780 (190)

Generation of three human induced pluripotent stem cell (hiPSC) lines from patients with Late-Onset Tay-Sachs disease (HEXA-related adult-onset GM2-gangliosidosis)

Stem Cell Research
Late-Onset Tay-Sachs (LOTS) disease is caused by mutations in the HEXA gene associated with a deficiency in the lysosomal enzyme β-hexosaminidase A, ultimately leading to an accumulation of ganglioside GM2.
Gorka Fernández-Eulate, Céline Banal, Solène Renault, Nathalie Lefort, Yann Nadjar   +4 more
doaj   +1 more source

Efficacy of a Bicistronic Vector for Correction of Sandhoff Disease in a Mouse Model

Molecular Therapy: Methods & Clinical Development, 2019
GM2 gangliosidoses are a family of severe neurodegenerative disorders resulting from a deficiency in the β-hexosaminidase A enzyme. These disorders include Tay-Sachs disease and Sandhoff disease, caused by mutations in the HEXA gene and HEXB gene ...
Evan Woodley, Karlaina J.L. Osmon, Patrick Thompson, Christopher Richmond, Zhilin Chen, Steven J. Gray, Jagdeep S. Walia   +6 more
doaj   +1 more source

Spartan Daily, February 5, 1988 [PDF]

, 1987
Volume 90, Issue 5https://scholarworks.sjsu.edu/spartandaily/7664/thumbnail ...
San Jose State University, School of Journalism and Mass Communications
core   +3 more sources

MR‐Guidance of Gene Therapy for Brain Diseases: Moving From Palliative Treatment to Cures

Journal of Magnetic Resonance Imaging, Volume 62, Issue 5, Page 1280-1295, November 2025.
ABSTRACT Regulatory bodies in the U.S. and Europe recently approved a gene therapy for aromatic L‐amino acid decarboxylase (AADC) deficiency, a rare neurologic disorder where a genetic mutation prevents dopamine production in the brain. Affected children fail to develop normal motor and cognitive functions.
Dalton H. Bermudez, Thomas Lilieholm, Walter F. Block   +2 more
wiley   +1 more source

Prenatal Diagnosis Of Tay-Sachs Disease

Gynecology Obstetrics & Reproductive Medicine, 2010
OBJECTIVE: To emphasize the efficacy and safety of the prenatal invasive procedures for prenatal diagnosis of Tay-Sachs disease. STUDY DESIGN: In this case series, the results of the prenatal invasive procedures that were performed for diagnosing Tay ...
Özgür Özyüncü, Derman Başaran, Asuman Özkara, Meral Topçu, Sinan Beksaç   +4 more
doaj  

Antenatal Genetic Studies [PDF]

, 1980
The Antenatal Genetic Testing Program at MCV began in 1973. The standard scheme for antenatal genetic testing involves counseling, the methods of carrier detection available, ultrasound, amniocentesis, and laboratory evaluation.
Redwine, Fay
core   +1 more source

CRISPR Technology in Disease Management: An Updated Review of Clinical Translation and Therapeutic Potential

Cell Proliferation, Volume 58, Issue 11, November 2025.
CRISPR‐Cas systems offer transformative genome editing capabilities for precise manipulation of cellular genes. This enables two main therapeutic avenues: ex vivo modification of patient cells for re‐transplantation or direct in vivo gene targeting via advanced delivery methods.
Bahareh Farasati Far, Marziyeh Akbari, Mohammad Amin Habibi, Morteza Katavand, Sherko Nasseri   +4 more
wiley   +1 more source

Expanding the spectrum of HEXA mutations in Indian patients with Tay–Sachs disease

Molecular Genetics and Metabolism Reports, 2014
Tay–Sachs disease is an autosomal recessive neurodegenerative disorder occurring due to impaired activity of β-hexosaminidase-A (EC 3.2.1.52), resulting from the mutation in HEXA gene.
Jayesh Sheth, Mehul Mistri, Chaitanya Datar, Umesh Kalane, Shekhar Patil, Mahesh Kamate, Harshuti Shah, Sheela Nampoothiri, Sarita Gupta, Frenny Sheth   +9 more
doaj   +1 more source

Seizures and electroencephalographic findings in inborn errors of metabolism: Clues to differential diagnosis in the neonatal period, infancy, childhood and adolescence, and review of the literature

Epileptic Disorders, Volume 27, Issue 5, Page 745-802, October 2025.
Abstract Although inborn errors of metabolism (IEM) are a rare cause of epilepsy, seizures are a common presentation in these disorders. Seizures in IEM are frequently refractory to conventional anti‐seizure medication and might warrant initiation of specific treatments based on vitamins or dietary modifications or provision of alternative substrates ...
D. Kapoor, S. Sharma, A. Kaminska, R. Nabbout, N. Chemaly, M. Schiff, P. De Lonlay, M. Eisermann   +7 more
wiley   +1 more source

Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies

Annals of Neurology, Volume 98, Issue 3, Page 448-470, September 2025.
[Color figure can be viewed at www.annalsofneurology.org] Autosomal recessive cerebellar ataxias are disabling neurodegenerative genetic conditions affecting balance and coordination. Advancements in genomic testing have improved diagnosis, leading to a new focus on the development of targeted precision therapeutics addressing cellular, biochemical ...
Brent L. Fogel, Thomas Klopstock, David R. Lynch, Francesca Maltecca, Mayank Verma, Berge A. Minassian, Frances M. Platt, Débora Farina Gonçalves, Hélène Puccio, Andreas Roos, Matthis Synofzik   +10 more
wiley   +1 more source