Results 121 to 130 of about 6,625 (209)

Adult-Onset Sandhoff Disease in a Filipino Patient: Asymmetric Weakness, Whole HEXB Gene Deletion, and Coexisting MYH7 Pathogenic Variant. [PDF]

Neurol Genet, 2022
Beecher G, Liewluck T, Milone M.
europepmc   +1 more source

Burden of caregiving of individuals with GM1 and GM2 gangliosidoses in the United States: a qualitative study

Orphanet Journal of Rare Diseases
Background GM1 and GM2 (Tay–Sachs and Sandhoff diseases) gangliosidoses are rare, autosomal recessive, potentially life-threatening, disabling disorders characterized by progressive neurodegeneration, with no disease-modifying treatment. This qualitative
Maria Belen Rodriguez, Ruth Pulikottil-Jacob, Karli Heuer, Nancy Gabriela Perez, Christine Waggoner, Diana Jussila, Chad Gwaltney, Robert Krupnick, Daisy Ng-Mak   +8 more
doaj   +1 more source

Clinical Presentation and Genetic Heterogeneity Including Two Novel Variants in Sri Lankan Patients With Infantile Sandhoff Disease. [PDF]

Child Neurol Open, 2022
Ozaal S, Jayasena S, Jayakody S, Schröder S, Jayawardana A, Jasinge E.   +5 more
europepmc   +1 more source

Investigating Immune Responses to the scAAV9-HEXM Gene Therapy Treatment in Tay-Sachs Disease and Sandhoff Disease Mouse Models. [PDF]

Int J Mol Sci, 2021
Kot S, Karumuthil-Melethil S, Woodley E, Zaric V, Thompson P, Chen Z, Lykken E, Keimel JG, Kaemmerer WF, Gray SJ, Walia JS.   +10 more
europepmc   +1 more source

Amiodarone and metabolite MDEA inhibit Ebola virus infection by interfering with the viral entry process [PDF]

, 2017
Ebola virus disease (EVD) is one of the most lethal transmissible infections characterized by a high fatality rate, and a treatment has not been developed yet.
Baritussio, Aldo, Bigler, Laurent, Calistri, Arianna, Fabris, Fabrizio, Garzino-Demo, Alfredo, Ha, Huy Riem, Mirazimi, Ali, Munegato, Denis, Palù, Giorgio, Parolin, Cristina, Salata, Cristiano   +10 more
core  

Sandhoff's Disease: A Case Report

Asian Journal of Pediatric Research
Sandhoff disease is a rare inherited disorder within the sphingolipidosis family, characterized by the accumulation of lipids in the nervous system due to a deficiency in hexosaminidase types A and B enzymes. This condition leads to progressive neurological disorders and eventual blindness, often resulting in fatality before the age of 4.
R. Majd, A. Radi, A. Laarej, A. Hassani, R. Abilkassem   +4 more
openaire   +1 more source

Effect of Yuzu (Citrus junos) Seed Limonoids and Spermine on Intestinal Microbiota and Hypothalamic Tissue in the Sandhoff Disease Mouse Model. [PDF]

Med Sci (Basel), 2021
Minamisawa M, Suzumura T, Bose S, Taniai T, Kawai G, Suzuki K, Yamaguchi A, Yamanaka S.   +7 more
europepmc   +1 more source

Simplifying complexity: genetically resculpting glycosphingolipid synthesis pathways in mice to reveal function [PDF]

, 2014

core   +1 more source

AAV-based gene therapy with modified HEXB confers lasting therapeutic benefits in GM2 gangliosidosis models

Cell Reports Medicine
Summary: GM2 gangliosidoses, including Tay-Sachs (TSD) and Sandhoff (SD) diseases, are lysosomal storage disorders with neurological manifestations caused by the excessive accumulation of GM2 ganglioside due to the deficiency of the β-hexosaminidase A ...
Keisuke Kitakaze, Yukiya Ohnishi, Daisuke Tsuji, Ryosuke Watanabe, Nijiho Kamori, Yuko Katakai, Hiroaki Shibata, Sota Yoshizawa, Mika Ito, Naomi Takino, Shin-ichi Muramatsu, Kohji Itoh   +11 more
doaj   +1 more source

Therapeutic benefit after intracranial gene therapy delivered during the symptomatic stage in a feline model of Sandhoff disease. [PDF]

Gene Ther, 2021
McCurdy VJ, Johnson AK, Gray-Edwards HL, Randle AN, Bradbury AM, Morrison NE, Hwang M, Baker HJ, Cox NR, Sena-Esteves M, Martin DR.   +10 more
europepmc   +1 more source