Results 31 to 40 of about 4,845,721 (162)

Bicistronic lentiviral vector corrects beta-hexosaminidase deficiency in transduced and cross-corrected human Sandhoff fibroblasts.

, 2005
Sandhoff disease is an autosomal recessive neurodegenerative disease characterized by a GM2 ganglioside intralysosomal accumulation. It is due to mutations in the β-hexosaminidases β-chain gene, resulting in a β-hexosaminidases A (αβ) and β (ββ ...
Arfi A., Caillaud C., Poenaru L., Bourgoin C., Sonnino S., Li Y., Chigorno V., Basso L., EMILIANI, Carla, TANCINI, Brunella, ORLACCHIO, Aldo   +10 more
core   +2 more sources

Prosaposin Is Cleaved Into Saposins by Multiple Cathepsins in a Progranulin‐Regulated Fashion

Journal of Neurochemistry, Volume 170, Issue 1, January 2026.
Prosaposin (PSAP) is a lysosomal protein cleaved into four bioactive saposins (SapA‐D) that regulate sphingolipid breakdown. Here, we identify nine cathepsins, including seven newly implicated enzymes, that process PSAP in a pH‐dependent manner to generate distinct cleavage products.
Molly Hodul, Courtney Lane‐Donovan, Emily S. Cheang, Vienna Gao, Paul J. Sampognaro, Edwina A. Mambou, Zoe Yang, Aimee W. Kao   +7 more
wiley   +1 more source

GM2-Gangliosidosis (Sandhoff and Tay Sachs disease): Diagnosis and Neuroimaging Findings (An Iranian Pediatric Case Series) [PDF]

, 2014
How to Cite This Article: Karimzadeh P, Jafari N, Nejad Biglari H, Jabbeh Dari S, Ahmad Abadi F, Alaee MR, Nemati H, Saket S,Tonekaboni SH, Taghdiri MM, Ghofrani M. GM2-Gangliosidosis (Sandhoff and Tay Sachs disease): Diagnosis and Neuroimaging Findings (
KARIMZADEH, Parvaneh, TAGHDIRI, Mohammad-Mahdi, NEMATI, Hamid, JABBEH DARI, Sayena, TONEKABONI, Seyed Hassan, JAFARI, Narjes, GHOFRANI, Mohammad, NEJAD BIGLARI, Habibeh, AHMAD ABADI, Farzad, SAKET, Sasan, ALAEE, Mohammad-Reza   +10 more
core   +1 more source

Globotriaosylceramide Gb3 Influences Wound Healing and Scar Formation by Orchestrating Fibroblast Heterogeneity

Advanced Science, Volume 12, Issue 41, November 6, 2025.
In superficial second‐degree burn wounds, Gb3 turns on genes related to papillary cells through the FGF2 signaling pathway. This increases the ability of cells to break down fibrin and decreases fibrosis, which ultimately prevents scar formation in burn injuries.
Sujie Xie, Runzhi Huang, Weijin Qian, Xinran Ding, Wei Zhang, Yixu Li, Jianyu Lu, Hanlin Sun, Yifan Liu, Yuntao Yao, Bingnan Lu, Minjuan Wu, Zhaofan Xia, Shizhao Ji   +13 more
wiley   +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

An inducible mouse model of late onset Tay-Sachs disease

, 2002
Mouse models of the GM2 gangliosidoses, Tay–Sachs and Sandhoff disease, are null for the hexosaminidase ? and ? subunits respectively. The Sandhoff (Hexb?/?) mouse has severe neurological disease and mimics the human infantile onset variant. However, the
Cortina-Borja, M, Sandhoff, Konrad, Platt, Frances M., Lemm, T, Platt, Frances, Lemm, Thorsten, Smith, D, Reinkensmeier, Gabriele, Platt, FM, Dwek, Raymond A., Eliott-Smith, Elena, Butters, TD, Perry, VH, Cortina-Borja, Mario, Perry, V. Hugh, Smith, David, Jeyakumar, M, Reinkensmeier, G, Jeyakumar, Mylvaganam, Sandhoff, K, Dwek, RA, Butters, Terry D., Eliott-Smith, E   +22 more
core   +1 more source

Delivering Progranulin to Astrocytic Lysosomes Promotes Growth of Co‐Cultured Neurons

Journal of Neurochemistry, Volume 169, Issue 11, November 2025.
Loss‐of‐function progranulin (GRN) mutations cause frontotemporal dementia. Most of these mutations cause haploinsufficiency of progranulin, a secreted pro‐protein that has neurotrophic and anti‐inflammatory effects. Progranulin is constitutively secreted before trafficking to lysosomes and it is unclear if its effects are mediated by extracellular ...
Azariah K. Kaplelach, Justin A. Hall, Wren O. Nader, Amelia G. Davidson, Margaret D. Ireland, Lara Ianov, Andrew E. Arrant   +6 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

The X-ray crystal structure of human beta-hexosaminidase B provides new insights into Sandhoff disease

, 2003
Human lysosomal beta-hexosaminidases are dimeric enzymes composed of alpha and beta-chains, encoded by the genes HEXA and HEXB. They occur in three isoforms, the homodimeric hexosaminidases B (betabeta) and S (alphaalpha), and the heterodimeric ...
Klingenstein, R., Saenger, W., Maier, T., Strater, N., Schuette, C. G., Sandhoff, K.   +5 more
core   +1 more source

Intricate Regulation of Sphingolipid Biosynthesis: An In‐Depth Look Into ORMDL‐Mediated Regulation of Serine Palmitoyltransferase

BioEssays, Volume 47, Issue 9, September 2025.
Multiple enzymes play a crucial role in regulating the biosynthesis of de novo sphingolipids. This regulation starts with the rate‐limiting enzyme, serine palmitoyltransferase (SPT), which catalyzes the first step of the pathway. Disruptions in this regulatory process can lead to serious diseases.
Usha Mahawar, Binks Wattenberg
wiley   +1 more source