Results 51 to 60 of about 565 (80)

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

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

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

Lysosomal storage diseases in North America: a comprehensive review of enzyme therapies and unmet needs. [PDF]

Ther Adv Rare Dis
Bennett LL.
europepmc   +1 more source

Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India. [PDF]

Hum Genomics
Sheth H, Nair A, Bhavsar R, Kamate M, Gowda VK, Bavdekar A, Kadam S, Nampoothiri S, Panigrahi I, Kaur A, Shah S, Mehta S, Jagadeesan S, Suresh I, Kapoor S, Bajaj S, Devi RR, Prajapati A, Godbole K, Patel H, Luhar Z, Shah RC, Iyer A, Bijarnia S, Puri R, Muranjan M, Shah A, Magar S, Gupta N, Tayade N, Gandhi A, Sowani A, Kale S, Jalan A, Solanki D, Dalal A, Mane S, Prabha CR, Sheth F, Joshi CG, Joshi M, Sheth J.   +41 more
europepmc   +1 more source

Characterization of gallbladder disease in metachromatic leukodystrophy across the lifespan. [PDF]

Mol Genet Metab
Mutua S, Sevagamoorthy A, Woidill S, Orchard PJ, Gavazzi F, MacFarland SP, Russo P, Vanderver A, Adang LA.   +8 more
europepmc   +1 more source

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Metachromatic leukodystrophy caused by a partial cerebroside sulfatase defect

Clinical Genetics, 1982
A patient with neuropathy and myopathy since infancy but whose neuropathy had been stable for a number of years showed a profound deficiency of arylsulfatase A in leukocytes and urine. Urine contained material that stained metachromatically and cochromatographed with cerebroside sulfate.
Hayato Kihara, Arvan L Fluharty, John S O'Brien   +2 more
exaly   +3 more sources

Cerebroside sulfatase determination in cultured human fibroblasts

Biochimica Et Biophysica Acta - Biomembranes, 1972
A procedure for the determination of cerebroside sulfatase activity in extracts of cultured human fibroblasts is described. Cerebroside [35S]sulfate prepared from developing rat brain serves as substrate and enzyme activity is estimated by measurement of released inorganic [35S]sulfate.
Arvan L Fluharty, Hayato Kihara, Hayato Kihara   +2 more
exaly   +3 more sources

Inhibition of specific opiate binding to synaptic membrane by cerebroside sulfatase

Biochemical Pharmacology, 1979
Abstract The role of cerebroside sulfate in the specific binding of opiates to the synaptic membrane was investigated by the use of the enzyme, sulfatase A (cerebroside sulfatase, cerebroside-3-sulfate-3-sulphohydrolyase, EC 3.1.6.8). It was observed that the hydrolysis of sulfatides in the synaptic membrane by this enzyme was dependent on the ...
A Herz, A Herz
exaly   +3 more sources