Results 71 to 80 of about 4,924,951 (177)

Choroidal Coloboma in a Case of Tay-Sachs Disease

Case Reports in Ophthalmological Medicine, 2014
Coloboma as an ocular finding has been documented in various syndromes. Here we have a case of infantile Tay-Sachs disease associated with unilateral choroidal coloboma.
Nasreen Raees Ahmed, Koushik Tripathy, Vivek Kumar, Varun Gogia   +3 more
doaj   +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

Molecular Diagnosis in a Specialised Neurogenetic Clinic With Access to Whole‐Genome Sequencing

Acta Neurologica Scandinavica, Volume 2026, Issue 1, 2026.
Background Rare diseases, collectively affecting 1 in 17 people in the United Kingdom and Ireland, require coordinated care. Specialised multidisciplinary clinics offer a streamlined approach for diagnosis and management of rare neurogenetic disorders.
Patrick B. Moloney, Nicholas W. Wood, Rob Rouhl   +2 more
wiley   +1 more source

Clinical and Molecular Findings of Nine Cases with Tay-Sachs Disease From Türkiye

, 2023
Objective: Tay-Sachs disease is a fatal inherited lysosomal storage disease that mostly has an early infantile onset. We presented a case series of Tay-Sachs disease, describe the clinical and molecular findings, and compare the genetic spectrum with ...
Yesil, Gozde, Sengenc, Esma, Tuğba Kalaycı, Güven Toksoy, Gokcay, Gülden Fatma, Çağrı Güleç, Oya Uyguner, KARACA, Meryem, Iscan, Akin, Volkan Karaman, Uyguner, Oya, TOKSOY, Güven, Gözde Yeşil, GÜLEÇ, Çağrı, Meryem Karaca, Akın İşcan, Şahin Avcı, KALAYCI, Tuğba, KARAMAN, Volkan, Esma Şengenç, Gülden Gökçay, ASLANGER, Ayça Dilruba, Ayça Dilruba Aslanger, Umut Altunoğlu, Avci, Sahin, Altunoglu, Umut   +25 more
core   +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

Narratives before numbers: Reimagining conversations about race, ethnicity, and ancestry information in genetic counseling practice

Journal of Genetic Counseling, Volume 34, Issue 6, December 2025.
Abstract As genomic testing becomes more common, it is essential to re‐examine practical and ethical arguments for and against eliciting race, ethnicity, and ancestry (REA) information from patients as a default practice in genetic counseling. In this article, we evaluate current and historical reasons for using REA information in clinical genetics ...
Emily Peugh, Sara Chandros Hull, Leila Jamal   +2 more
wiley   +1 more source

Animal models of GM2 gangliosidosis: utility and limitations

The Application of Clinical Genetics, 2016
Cheryl A Lawson,1,2 Douglas R Martin2,3 1Department of Pathobiology, 2Scott-Ritchey Research Center, 3Department of Anatomy, Physiology and Pharmacology, Auburn University College of Veterinary Medicine, Auburn, AL, USA Abstract: GM2 gangliosidosis, a ...
Lawson CA, Martin DR
doaj  

Macular Cherry Red Spots in Tay-Sachs disease

, 1963
Macular cherry red spots in patient with Tay-Sachs disease. Anatomy: Retina. Pathology: Retinal ganglion cell accumulation of lipid. Disease/Diagnosis: Tay-Sachs disease.
William F. Hoyt, MD
core  

Tay-Sachs Disease

, 1971
Presenting Symptom: Blind OU; Gangliosidic accumulation in the retina. Pathology: Perifoveal opacity. In Tay-Sachs Disease, a ganglioside accumulates in ganglion cells of the retina and brain, causing blindness and death within the first few years of ...
David G. Cogan, MD (1908-1993)
core  

Generation of HEXA-deficient hiPSCs from fibroblasts of a Tay-Sachs disease patient

Stem Cell Research, 2016
Human iPSC line TSD-01-hiPSC was generated from fibroblasts of a patient with infantile Tay-Sachs disease (TSD). The patient is compound heterozygous at the HEXA gene by carrying a 1278insTATC allele and an IVS12+1G>C allele.
Zhong Liu, Rui Zhao
doaj   +1 more source