Results 51 to 60 of about 5,931 (183)

Case Report: Novel Arylsulfatase A (ARSA) Gene Mutations in a Patient With Adult-Onset Metachromatic Leukodystrophy Misdiagnosed as Multiple Sclerosis

Frontiers in Neurology, 2021
Metachromatic leukodystrophy (MLD) is an autosomal recessive hereditary disorder characterized by the accumulation of sulfatide in the central and peripheral nervous systems. Herein, we present the case of an adult patient with MLD who had mild cognitive
Lulu Xu, Meixiang Zhong, Yajuan Wang, Zhihong Wang, Jie Song, Jing Zhao, Hongyun Yu, Zhencui Yang, Wenjing Yan, Xueping Zheng   +9 more
doaj   +1 more source

Unraveling Lysosomal Exocytosis: From Molecular Mechanisms to Physiological Functions

Traffic, Volume 27, Issue 1, March 2026.
Lysosomal exocytosis is propelled by specific molecular mechanisms that direct its microtubule‐dependent transport and subsequent fusion with the plasma membrane. This process fulfills essential physiological functions such as plasma membrane repair, maintenance of cellular homeostasis, and participation in signal transduction.
Shanshan Jiang, Jingyi Fu, Shan Li, Zehui Li, Qirui Zhao, Yuqi Yin, Mei Yang, Yonghua Wang   +7 more
wiley   +1 more source

Neurological diagnoses in children potentially fulfilling the criteria for developmental coordination disorder

Developmental Medicine &Child Neurology, Volume 68, Issue 2, Page 251-262, February 2026.
In children potentially fulfilling the criteria for developmental coordination disorder (DCD), phenotypical assessment does not sufficiently predict the diagnostic outcome (i.e. DCD or an alternative diagnosis). Due to the lack of distinguishing clinical and diagnostic features and the high prevalence of genetic diagnoses in these patients, additional ...
Martinica Garofalo, Fleur Vansenne, Jessika F. van Hoorn, Marina A. J. Tijssen, Dineke S. Verbeek, Deborah A. Sival   +5 more
wiley   +1 more source

Redefining the phenotype of ALSP and AARS2 mutation-related leukodystrophy [PDF]

, 2017
OBJECTIVE: To provide an overview of the phenotype of 2 clinically, radiologically, and pathologically similar leukodystrophies, adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) and alanyl-transfer RNA synthetase 2 mutation-
Adams, ME, Chataway, J, Davagnanam, I, Fox, NC, Houlden, H, Kinsella, JA, Lakshmanan, R, Lynch, DS, Murphy, E, Phadke, R, Rohrer, JD, Schott, JM   +11 more
core   +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