Results 81 to 90 of about 15,059 (213)

Metachromatic Leukodystrophy: Diagnosis and Treatment Challenges

Bionatura, 2021
Metachromatic leukodystrophy is a neurological disease of the lysosomal deposit that has a significant impact given the implications for the neurodegenerative deterioration of the patient.
N. T. Sanchez-Álvarez, P. Bautista-Niño, Juanita Trejos-Suárez, N. Serrano-Díaz   +3 more
semanticscholar   +1 more source

HEPES in Cell Culture Alters the Multi‐Omics Profile Exhibited by Gaucher Disease Fibroblasts

Journal of Cellular Biochemistry, Volume 127, Issue 1, January 2026.
ABSTRACT Lysosomal function can be affected by components in cell culture. This in turn may influence cellular metabolism and, consequently, research and diagnostics outcomes. One such component is the commonly used pH buffer 4‐(2‐hydroxyethyl)‐1‐piperazineethanesulfonic acid (HEPES).
Eleonore M. Corazolla, Bauke V. Schomakers, Maria M. Trętowicz, Jill Hermans, Michel van Weeghel, Frédéric M. Vaz, Mia L. Pras‐Raves, Karen Ghauharali‐van der Vlugt, Femke S. Beers‐Stet, Susanna M. I. Goorden, Judith Jansen‐Meijer, Georges E. Janssens, Carla E. M. Hollak, Riekelt H. Houtkooper, André B. P. van Kuilenburg   +14 more
wiley   +1 more source

Lentiviral Vector-Mediated Correction of a Mouse Model of Leukocyte Adhesion Deficiency Type I [PDF]

, 2016
Leukocyte adhesion deficiency type I (LAD-I) is a primary immunodeficiency caused by mutations in the ITGB2 gene and is characterized by recurrent and life-threatening bacterial infections.
Aldea, M, Almarza, E, Bueren, JA, Burns, SO, Leon-Rico, D, Mesa-Nuñez, C, Record, J, Sanchez-Baltasar, R, Santilli, G, Thrasher, AJ   +9 more
core   +1 more source

The physiological and pathological effects of sphingolipid metabolism and signaling in the central nervous system

Brain Pathology, Volume 36, Issue 1, January 2026.
Sphingolipids are vital components of cell membranes. Metabolic disruptions of sphingolipids, including ceramide and sphingosine‐1‐phosphate, are linked to neurological disorders. This article summarizes the classification, structure, and metabolic processes of sphingolipids, and the physiological and pathological effects of sphingolipid metabolism and
Tian Li, Haoying He, Ejuan Zhang, Fengjiao Hu, Zhuo Wang, Jian Xu, Mengliu Zeng, Biwen Peng   +7 more
wiley   +1 more source

Adult-Onset Metachromatic Leukodystrophy: Two Cases

Türk Nöroloji Dergisi, 2011
Metachromatic Leukodystrophy(MLD) is a lisosomal storage disorder which is characterized with arylsulphatase A deficiency. Enzyme deficiency results with demiyelination and storage of sulphatides in central nervous system.According to onset age;the ...
Gaye Eryaşar, Yeşim Beckmann, Yaprak Seçil   +2 more
doaj   +2 more sources

Multiple Sulfatase Deficiency

Pediatric Neurology Briefs, 1988
A 9-year-old girl with a phenotype similar to a mucopolysaccharidosis (MPS) and a clinical history characteristic of late infantile metachromatic leukodystrophy (MLD) is reported from the Department of Neurology, National Defense Medical Center, Taipei ...
J Gordon Millichap
doaj   +1 more source

Dual-regulated lentiviral vector for gene therapy of X-linked chronic granulomatosis [PDF]

, 2014
Regulated transgene expression may improve the safety and efficacy of hematopoietic stem cell (HSC) gene therapy. Clinical trials for X-linked chronic granulomatous disease (X-CGD) employing gammaretroviral vectors were limited by insertional oncogenesis
Aiuti, A, Bombelli, F, Capo, V, Chiriaco, M, Di Matteo, G, Farinelli, G, Finocchi, A, Gentner, B, Giorda, E, Grez, M, Hernandez, R, Kajaste-Rudnitski, A, Migliavacca, M, Naldini, L, Rossi, P, Scaramuzza, S, Sergi, L, Trono, D, Zonari, E   +18 more
core   +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

TFEB regulates lysosomal proteostasis [PDF]

, 2013
Loss-of-function diseases are often caused by destabilizing mutations that lead to protein misfolding and degradation. Modulating the innate protein homeostasis (proteostasis) capacity may lead to rescue of native folding of the mutated variants, thereby
Abrahamov, Alberto di Ronza, Altarescu, Ashley Ake, Balch, Balch, Beutler, Brown, Cho, Christophe, Desnick, Dionisi-Vici, Fan Wang, Ferrao-Gonzales, Fu, Futerman, Gennarino, Gieselmann, Ginzburg, Grabowski, Grabowski, Grace, Hruska, Huang, Karageorgos, Kim, Kiselyov, Koprivica, Krivit, Krivit, Krivit, Laura Segatori, Lieberman, Lopes, Lu, Lu, Lubke, Ma, Maley, Marco Sardiello, Marzia Savini, Medina, Meikle, Michelakakis, Mu, Mu, Neufeld, Nigg, Ong, Palmieri, Parr, Powers, Reczek, Rohrbach, Ron, Roversi, Sands, Sardiello, Sardiello, Sawkar, Sawkar, Schmitz, Schueler, Seregin, Settembre, Shapiro, Steingrimsson, Subramanian, Tropak, Tsuji, Tsuji, Tsunemi, Vandesompele, Wang, Wang, Wang, Wei, Welch, Wensi Song, Yu, Zhao   +80 more
core   +1 more source

The Influence of Schwann Cell Metabolism and Dysfunction on Axon Maintenance

Glia, Volume 73, Issue 12, Page 2338-2352, December 2025.
Main Points Sensory neurons depend on Schwann cells for survival. Schwann cells provide energy for axons dunng rapid firing or after injury. Dysregulated metabolism in Schwann cells can lead to the production of neurotoxic and axon degeneration. ABSTRACT Schwann cells are the glial cells in the peripheral nervous system responsible for the production ...
Rose Follis, Vishwanath V. Prabhu, Bruce D. Carter   +2 more
wiley   +1 more source