Results 51 to 60 of about 6,691 (192)

An Evalution of the Demographic and Clinical Characterictics of Patients with GM2 Gangliosidosis

Journal of Pediatric Research, 2018
Aim:The purpose of our study is to submit the demographic, phenotypic and age at diagnosis characteristics of children with GM2 gangliosidosis.Materials and Methods: Patients with GM2 gangliosidosis who were referred to Ege University Faculty of Medicine,
Esra Er, Ebru Canda, Havva Yazıcı, Cenk Eraslan, Eser Sözmen, Sema Kalkan Uçar, Mahmut Çoker   +6 more
doaj   +1 more source

Microglia-Specific Expression of HEXA and HEXB Leads to Poor Prognosis in Glioblastoma Patients

Frontiers in Oncology, 2021
Glioblastoma multiforme (GBM) is one of the deadliest cancers in brain. There have been few treatment advances for GBM despite increasing scientific understanding of this disease.
Mengxian Jia, Mengxian Jia, Wenbin Zhang, Wenbin Zhang, Junle Zhu, Changgang Huang, Jian Zhou, Jian Zhou, Jiashu Lian, Jiashu Lian, Ying Wang, Honglin Teng, Zhihui Huang, Zhihui Huang   +13 more
doaj   +1 more source

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

Intestinal Acid Sphingomyelinase Protects From Severe Pathogen-Driven Colitis [PDF]

, 2019
Inflammatory diseases of the gastrointestinal tract are emerging as a global problem with increased evidence and prevalence in numerous countries. A dysregulated sphingolipid metabolism occurs in patients with ulcerative colitis and is discussed to ...
Becker, Katrin A., Ebel, Jana-Fabienne, Hose, Matthias [u.v.m.], Japtok, Lukasz, Klopfleisch, Robert, Meiners, Jana, Palmieri, Vittoria, Schumacher, Fabian, Yusuf, Ayan Mohamud, Zöller, Julia   +9 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

Upregulating β-hexosaminidase activity in rodents prevents α-synuclein lipid associations and protects dopaminergic neurons from α-synuclein-mediated neurotoxicity

Acta Neuropathologica Communications, 2020
Sandhoff disease (SD) is a lysosomal storage disease, caused by loss of β-hexosaminidase (HEX) activity resulting in the accumulation of ganglioside GM2. There are shared features between SD and Parkinson’s disease (PD).
Oeystein R. Brekk, Joanna A. Korecka, Cecile C. Crapart, Mylene Huebecker, Zachary K. MacBain, Sara Ann Rosenthal, Miguel Sena-Esteves, David A. Priestman, Frances M. Platt, Ole Isacson, Penelope J. Hallett   +10 more
doaj   +1 more source

A human neuronal model of Niemann Pick C disease developed from stem cells isolated from patient's skin. [PDF]

, 2013
Niemann Pick C (NPC) disease is a neurovisceral lysosomal storage disorder due to mutations in NPC1 or NPC2 genes, characterized by the accumulation of endocytosed unesterified cholesterol, gangliosides and other lipids within the lysosomes/late ...
Beltrami, Antonio Paolo, Beltrami, Carlo Alberto, Bembi, B, Bergamin, N, Cesselli, Daniela, Dardis, A, Domenis, Rossana, Rigo, S, Zampieri, S   +8 more
core   +2 more sources

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

The diagnostic journey for patients with late-onset GM2 Gangliosidoses

Molecular Genetics and Metabolism Reports, 2023
Late-onset forms of GM2 gangliosidosis―mainly, Tay-Sachs disease and Sandhoff disease―are under-recognized in clinical practice. In these rare lysosomal storage disorders, deficiency of β-hexosaminidase A results in excessive accumulation of GM2 ...
Mariah C. Lopshire, Cynthia Tifft, John Burns, Rebecca Gould, Riliang Zheng, Isabela Batsu   +5 more
doaj   +1 more source