Results 111 to 120 of about 4,682 (148)

Rare biochemical & genetic conditions: clues for broader mechanistic insights. [PDF]

Cell Mol Life Sci
Mentis AA, Dalamaga M.
europepmc   +1 more source

A new glucocerebrosidase chaperone reduces α-synuclein and glycolipid levels in iPSC-derived dopaminergic neurons from patients with gaucher disease and parkinsonism [PDF]

, 2016
et al,, Fujiwara, Hideji, Ory, Daniel S, Sidhu, Rohini   +3 more
core   +1 more source

Niemann-Pick disease type C or Gaucher's disease type 3? A clinical conundrum. [PDF]

BMJ Case Rep, 2014
Pandi S, Chandran V, Deshpande A, Kurien A.   +3 more
europepmc   +1 more source

Advances in Cell and Gene Therapy for Rare Disease Treatment. [PDF]

Int J Stem Cells
Baek HJ, Nam Y, Rim YA, Ju JH.
europepmc   +1 more source

A novel allosteric GCase modulator prevents Tau accumulation in GBA1^WT and GBA1^L444P/L444P cellular models. [PDF]

Sci Rep
Ciccaldo M, Pérez-Carmona N, Piovesana E, Cano-Crespo S, Ruano A, Delgado A, Fregno I, Calvo-Flores Guzmán B, Bellotto M, Molinari M, Taylor J, Papin S, García-Collazo AM, Paganetti P.   +13 more
europepmc   +1 more source

Biochemical response to substrate reduction therapy versus enzyme replacement therapy in Gaucher disease type 1 patients [PDF]

core   +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

Non-neuronopathic Gaucher disease (Type I) in an elderly female: a case report. [PDF]

Ann Med Surg (Lond)
Bohara S, Bhattarai S, Khadka M, Ghimire D, Karki S, Poudel N, Aryal G, Dhakal SS.   +7 more
europepmc   +1 more source

Aseptic osteonecrosis of the jaw in a patient with HIV on tenofovir. [PDF]

Proc (Bayl Univ Med Cent)
Bhattarai S, Bhattarai S, Dondapati L, Macapinlac E, Kolade V.   +4 more
europepmc   +1 more source