Results 131 to 140 of about 7,167 (179)

Gaucher disease, state of the art and perspectives. [PDF]

J Intern Med
Camou F, Berger MG.
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Identification of Novel Mutations in Patients Affected by Gaucher Disease. [PDF]

Int J Mol Sci
Anania M, Giacomarra M, D'Errico A, Marano M, Tartaglione I, Spada M, Pagliardini V, De Paolis MR, Giuffrida G, Duro G, Di Chiara T, Francofonte D, Marsana EM, Colomba P, Duro G, Zizzo C.   +15 more
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Reply: "PGRN Manifesting as Parkinson's Disease: Counseling and Treatment Implications". [PDF]

Mov Disord Clin Pract
Antonini A, Bonato G, Carecchio M.
europepmc   +1 more source

New Antibodies to Advance Glucocerebrosidase Research

Journal of Parkinson’s Disease
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Repurposing Gaucher disease therapy for Saposin C deficiency: Proof-of-concept with eliglustat.

Mol Genet Metab
Minea C, Deegan PB.
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
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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
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