Results 81 to 90 of about 620 (115)

Molecular, Biochemical and Functional Studies in Genes Determining Missorting of Lysosomal Proteins [PDF]

, 2013
Maria Francisca de Lima Magriço Coutinho
core  

Purifying selection of the lysosomal enzymes arylsulfatase A and beta-galactocerebrosidase and their evolutionary impact on myelin integrity. [PDF]

J Lipid Res
Luetzen MA, Chakraborty R, Moreno-Ramos OA, Echeverri-Peña OY, Satta Y, Montaño AM.   +5 more
europepmc   +1 more source

Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States. [PDF]

Cytotherapy
Adang LA, Bonkowsky JL, Boelens JJ, Mallack E, Ahrens-Nicklas R, Bernat JA, Bley A, Burton B, Darling A, Eichler F, Eklund E, Emrick L, Escolar M, Fatemi A, Fraser JL, Gaviglio A, Keller S, Patterson MC, Orchard P, Orthmann-Murphy J, Santoro JD, Schöls L, Sevin C, Srivastava IN, Rajan D, Rubin JP, Van Haren K, Wasserstein M, Zerem A, Fumagalli F, Laugwitz L, Vanderver A.   +31 more
europepmc   +1 more source

Unraveling Lysosomal Exocytosis: From Molecular Mechanisms to Physiological Functions. [PDF]

Traffic
Jiang S, Fu J, Li S, Li Z, Zhao Q, Yin Y, Yang M, Wang Y.   +7 more
europepmc   +1 more source

A systematic review on the birth prevalence of metachromatic leukodystrophy. [PDF]

Orphanet J Rare Dis
Chang SC, Bergamasco A, Bonnin M, Bisonó TA, Moride Y.   +4 more
europepmc   +1 more source

ARSA Variants Associated With Cognitive Decline and Long-Term Preservation of Motor Function in Metachromatic Leukodystrophy. [PDF]

J Inherit Metab Dis
Beerepoot S, Schoenmakers DH, Fumagalli F, Groeschel S, Schöls L, Schiffmann R, Wong S, Boespflug-Tanguy O, Sevin C, Nadjar Y, Bley A, Mochel F, Horn MA, Baldoli C, Locatelli S, Hengel H, Laugwitz L, Hollak CEM, Gieselmann V, van der Knaap MS, Wolf NI.   +20 more
europepmc   +1 more source

Developmental transcriptomics in <i>Pristionchus</i> reveals the environmental responsiveness of a plasticity gene-regulatory network. [PDF]

Genome Res
Reich S, Loschko T, Jung J, Nestel S, Sommer RJ, Werner MS.   +5 more
europepmc   +1 more source

Metachromatic Leukodystrophy: New Therapy Advancements and Emerging Research Directions. [PDF]

Neurology
Asbreuk MABC, Schoenmakers DH, Adang LA, Beerepoot S, Bergner C, Bley A, Boelens JJ, Bugiani M, Calbi V, García-Cazorla À, Eklund EA, Fumagalli F, Grønborg SW, Groeschel S, Van Hasselt PM, Hollak CEM, Jones SA, de Koning TJ, van Kuilenburg ABP, Laugwitz L, Lindemans C, Mochel F, Øberg A, Ram D, Schöls L, Sevin C, Sinha J, Vaz FM, Zerem A, Wolf NI.   +29 more
europepmc   +1 more source

Effects of sulfatide on peripheral nerves in metachromatic leukodystrophy. [PDF]

Ann Clin Transl Neurol
Farah MH, Dali CÍ, Groeschel S, Moldovan M, Whiteman DAH, Malanga CJ, Krägeloh-Mann I, Li J, Barton N, Krarup C.   +9 more
europepmc   +1 more source