Results 141 to 150 of about 11,713 (255)

Penetrance of PD in Glucocerebrosidase Gene Mutation Carriers [PDF]

, 2012
Ellen Sidransky, P. Suzanne Hart
openalex   +1 more source

Characterization of Novel Human β-glucocerebrosidase Antibodies for Parkinson Disease Research [PDF]

, 2023
Tiffany Jong, Alexandra Gehrlein, Ellen Sidransky, Ravi Jagasia, Yu Chen   +4 more
openalex   +1 more source

Rapid and long‐lasting efficacy of high‐dose ambroxol therapy for neuronopathic Gaucher disease: A case report and literature review

Molecular Genetics & Genomic Medicine
Gaucher disease (GD) is a lysosomal storage disorder caused by a deficiency in the GBA1‐encoded enzyme, β‐glucocerebrosidase. Enzyme replacement therapy is ineffective for neuronopathic Gaucher disease (nGD).
Kanako Higashi, Yuri Sonoda, Noriyuki Kaku, Fumihiko Fujii, Fumiya Yamashita, Sooyoung Lee, Vlad Tocan, Go Ebihara, Wakato Matsuoka, Kenichi Tetsuhara, Motoshi Sonoda, Pin Fee Chong, Yuichi Mushimoto, Kanako Kojima‐Ishii, Masataka Ishimura, Yuhki Koga, Atsuhisa Fukuta, Nana Akagi Tsuchihashi, Yoshikazu Kikuchi, Takahito Karashima, Takaaki Sawada, Taeko Hotta, Makoto Yoshimitsu, Hideyuki Terazono, Tatsuro Tajiri, Takashi Nakagawa, Yasunari Sakai, Kimitoshi Nakamura, Shouichi Ohga   +28 more
doaj   +1 more source

Transplantation and gene transfer of the human glucocerebrosidase gene into immunoselected primate CD34+Thy-1+ cells [PDF]

, 1996
RE Donahue, ER Byrne, TE Thomas, MR Kirby, BA Agricola, SE Sellers, G Gaudernack, S Karisson, PM Lansdorp   +8 more
openalex   +1 more source

Lysosomal Glucocerebrosidase is needed for ciliary Hedgehog signaling: A convergent pathway to Parkinson’s disease [PDF]

Sreeja V. Nair, Ebsy Jaimon, Ayan Adhikari, Jonas Nikoloff, Suzanne R. Pfeffer   +4 more
openalex   +1 more source

Front Cover: Identification of ß‐Glucocerebrosidase Activators for Glucosylceramide hydrolysis (ChemMedChem 7/2024) [PDF]

Monika‐Sarah E. D. Schulze, Diana Scholz, Eric Jnoff, Adrian Hall, Jonathan Melin, Zara A. Sands, Elizabeth Rodríguez Acevedo, Véronique André   +7 more
openalex   +1 more source

Gene Expression of Lysosomal Membrane Proteins in Parkinson Disease, Associated with Mutations in the Glucocerebrosidase Gene (GBA)

, 2020
Tatiana Usenko, Shiryaeva Tatiana, Anastasia Bezrukova, I Bezrukova Anastasia, Darya Bogdanova, A Bogdanova Darya, Михаил Николаев, A Nikolaev Mikhail, Irina Miliukhina, V Miliukhina Irina   +9 more
openalex   +2 more sources

Dermal Phospho-Alpha-Synuclein Deposition in Patients With Parkinson's Disease and Mutation of the Glucocerebrosidase Gene [PDF]

, 2018
Kathrin Doppler, Kathrin Brockmann, Annahita Sedghi, Isabel Wurster, Jens Volkmann, Wolfgang H. Oertel, Claudia Sommer   +6 more
openalex   +1 more source

Supplemental Data for "LRRK2 kinase activity regulates lysosomal glucocerebrosidase activity in neurons derived from Parkinson's disease patients"

, 2019
Daniel Ysselstein, Dimitri Krainc
openalex   +1 more source

Glucocerebrosidase (GBA; GCase) [PDF]

Science-Business eXchange, 2014
openaire   +1 more source