Results 101 to 110 of about 21,243 (259)

Accumulation of lysosulfatide in the brain of arylsulfatase A-deficient mice

Lipids in Health and Disease, 2011
Lysosomal storage diseases are a group of disorders where accumulation of catabolites is manifested in the lysosomes of different cell types. In metachromatic leukodystrophy (Arylsulfatase A [EC.3.1.6.8] deficiency) storage of the glycosphingolipid ...
Månsson Jan-Eric, Gieselmann Volkmar, Blomqvist Maria   +2 more
doaj   +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

RNA‐Based Therapies for Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Inherited metabolic disorders (IMDs) are a diverse and complex group of genetic conditions resulting from deficiencies in enzymes, transporters, or cofactors. These deficiencies lead to metabolic dysfunction and severe clinical consequences. Despite significant progress in understanding their molecular basis, treatment options remain limited ...
Reddy Sreekanth Vootukuri, Sonam Gurung, Roopkatha Ghosh, Philippa B. Mills, Julien Baruteau, Haiyan Zhou   +5 more
wiley   +1 more source

Seizures and disturbed brain potassium dynamics in the leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts [PDF]

, 2018
OBJECTIVE: Loss of function of the astrocyte-specific protein MLC1 leads to the childhood-onset leukodystrophy "megalencephalic leukoencephalopathy with subcortical cysts" (MLC).
Boschert, U, Brouwers, E, Bugiani, M, Dubey, M, Hamilton, EMC, Koch, H, Kole, MHP, Mansvelder, HD, Min, R, Stiedl, O, van der Knaap, MS, Wykes, RC   +11 more
core   +1 more source

Epilepsy Phenotype and EEG Finding of Rhythmic High‐Amplitude Delta With Superimposed Spikes (RHADS) in Succinate Dehydrogenase Deficiency

JIMD Reports, Volume 67, Issue 2, March 2026.
ABSTRACT Succinate dehydrogenase (SDH) serves a dual function as complex II of the electron transport chain and an enzyme of the tricarboxylic acid cycle. Pathogenic variants in subunits of SDH result in diverse clinical presentations, including typically autosomal recessive neurodegenerative disorders. Biallelic variants in the SDHA subunit most often
Aaron B. Bowen, Chiadika Nwanze, Cesar Alves, Lance Rodan, Anna Lecticia Pinto, Melissa A. Walker, Irina Anselm, Phillip L. Pearl   +7 more
wiley   +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

Metallothioneins as dynamic markers for brain disease in lysosomal disorders [PDF]

, 2015
Objective: To facilitate development of novel disease-modifying therapies for lysosomal storage disorder (LSDs) characterized by nervous system involvement such as metachromatic leukodystrophy (MLD), molecular markers for monitoring disease progression ...
Biffi, Alessandra, Cavalca, Eleonora, Cesani, Martina, Comi, Giancarlo, Doglioni, Claudio, Furlan, Roberto, Leoncini, Giuseppe, Lorioli, Laura, Macco, Romina, Scherzer, Clemens R, Sessa, Maria, Terreni, Maria Rosa, Zacchetti, Daniele   +12 more
core   +1 more source

A Human Model of Oligodendrocyte Development Shows MCL‐1 Influences Oligodendrocyte Morphogenesis

Glia, Volume 74, Issue 2, February 2026.
A unified model of oligodendrocyte differentiation from human embryonic stem cells revealed that MCL‐1 is critical for regulating the expression of oligodendrocyte‐related genes and the morphogenesis of myelinating oligodendrocytes. ABSTRACT Oligodendrocytes are the myelinating cells of the central nervous system.
Melanie Gil, Marina R. Hanna, Vivian Gama   +2 more
wiley   +1 more source

Kinetika i aktivnost leukocitne arilsulfataze A u osoba s dijagnozom cerebralne paralize [PDF]

, 2006
Activity and kinetics of arylsulfatase A (ASA, EC 3.1.6.8) were analyzed in leukocyte homogenates derived from patients suffering from cerebral palsy.
BLAZENKA FORETIC, IVANA FURAC, SVJETLANA KALANJ BOGNAR, ZDRAVKO GRUBESIC, ZELJKA VUKELIC   +4 more
core   +1 more source

Alterations to nuclear architecture and genome behavior in senescent cells. [PDF]

, 2007
The organization of the genome within interphase nuclei, and how it interacts with nuclear structures is important for the regulation of nuclear functions.
Abney J.R., Agrelo R., Barboro P., Becker P.B., Bemiller P.M., Benn P.A., Berezney R., Bowman P.D., Bridger J.M., Bridger J.M., C. S. CLEMENTS, Campisi J., Chaly N., Chang K.S., Cremer T., de Lange T., Dell'Orco R.T., Dijkwel P.A., Ferbeyre G., Filesi I., Fisher A.G., Fleischer S., Goldman R.D., Gruenbaum Y., Haque F., Hernandez-Verdun D., Holliday R., Hozak P., I. R. KILL, I. S. MEHTA, J. M. BRIDGER, Kill I.R., Kreth G., Lezhava T., Li Y., M. FIGGITT, Mallette F.A., Manuelidis L., Mazin A.L., Mitsui Y., Mukherjee A.B., Nickerson J., Okabe J., Padiath Q.S., Pawelec G., Petrova N.V., Schardin M., Schulz L., Smilenov L.B., Strouboulis J., Tanabe H., van Driel R., Wang G.S.   +52 more
core   +1 more source