Results 221 to 230 of about 11,713 (255)

Ten-Year Follow-Up of Taliglucerase Alfa in Type 1 Gaucher Disease: Real-World Evidence from Albania. [PDF]

J Clin Med
Cullufi P, Velmishi V, Troja E, Tomori S, Dervishi E, Hoxha G, Tanka M, Pulluqi P, Perolla A, Basha E, Ivanaj A, Jazexhiu E, Tabaku M.   +12 more
europepmc   +1 more source

A guide to selecting high-performing antibodies for GCase (UniProt ID: P04062) for use in western blot, immunoprecipitation, and immunofluorescence. [PDF]

F1000Res
Worrall D, Alende C, Fothouhi M, Moleón VR, Bolívar SG, Ayoubi R, Francis V, Laflamme C, McPherson PS.   +8 more
europepmc   +1 more source

Sustained release of a pharmacological chaperone that increases the activity of misfolded ß-Glucocerebrosidase

, 2019
Hamidreza Enshaei, Brenda Guadalupe Molina García, Luís J. del Valle, Francesc Estrany, Carme Arnan, Jordi Puiggalı́, Núria Saperas Plana, Carlos Alemán   +7 more
openalex   +1 more source

Ambroxol displaces α-synuclein from the membrane and inhibits the formation of early protein-lipid coaggregates^†

Dreier JE, Stevenson A, Carles E, Michaels TC, Galvagnion C.   +4 more
europepmc   +1 more source

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Glucocerebrosidase dysfunction in neurodegenerative disease

Essays in Biochemistry, 2021
Abstract Parkinson's disease (PD) and related neurodegenerative disorders, termed the synucleinopathies, are characterized pathologically by the accumulation of protein aggregates containing α-synuclein (aSyn), resulting in progressive neuronal loss.
Sarah M. Brooker, Dimitri Krainc
openaire   +2 more sources

Glucocerebrosidase (Gaucher disease)

Human Mutation, 1996
Gaucher disease is the most common glycolipid storage disorder, characterized by storage of the glycolipid, glucocerebroside in the liver, spleen, and marrow. The most prevalent form of Gaucher disease is designated type I (MIM 230800). Patients with type I disease may have hepatomegaly, splenomegaly, bone lesions, and less commonly, lung disease, but ...
E, Beutler, T, Gelbart
openaire   +2 more sources