Results 121 to 130 of about 3,748 (212)

The N370S (Asn370→Ser) mutation affects the capacity of glucosylceramidase to interact with anionic phospholipid-containing membranes and saposin C [PDF]

, 2005
Rosa Salvioli, Massimo Tatti, Susanna Scarpa, Sabrina Maria Moavero, Fiorella Ciaffoni, Federica Felicetti, Christine R. Kaneski, Roscoe O. Brady, Anna Maria Vaccaro   +8 more
openalex   +1 more source

Paenibacillus sp. TS12 glucosylceramidase: kinetic studies of a novel sub-family of family 3 glycosidases and identification of the catalytic residues [PDF]

, 2004
Krisztina Paál, Makoto Ito, Stephen G. Withers   +2 more
openalex   +1 more source

Children with Genetically Confirmed Hereditary Spastic Paraplegia: A Single-Center Experience

Children
Objective: The classification of hereditary spastic paraplegia (HSP) is based on genetics, and the number of genetic loci continues to increase with new genetic descriptions.
Seyda Besen, Yasemin Özkale, Murat Özkale, Sevcan Tuğ Bozdoğan, Özlem Alkan, Serdar Ceylaner, İlknur Erol   +6 more
doaj   +1 more source

Clinical characteristics and pathophysiological properties of newly discovered LRRK2 variants associated with Parkinson's disease

Neurobiology of Disease
Leucine-rich repeat kinase 2 (LRRK2) is the most common gene responsible for familial Parkinson's disease (PD). The gene product of LRRK2 contains multiple protein domains, including armadillo repeat, ankyrin repeat, leucine-rich repeat (LRR), Ras-of ...
Toshiki Tezuka, Mayu Ishiguro, Daisuke Taniguchi, Ehoto Osogaguchi, Kahori Shiba-Fukushima, Jun Ogata, Ryota Ishii, Aya Ikeda, Yuanzhe Li, Hiroyo Yoshino, Taro Matsui, Kenichi Kaida, Manabu Funayama, Kenya Nishioka, Fumihisa Kumazawa, Tomoyasu Matsubara, Hitoshi Tsuda, Yuko Saito, Shigeo Murayama, Yuzuru Imai, Nobutaka Hattori   +20 more
doaj   +1 more source

PINK1 is a target of T cell responses in Parkinson’s disease

The Journal of Clinical Investigation
Parkinson’s disease (PD) is the second most prevalent neurodegenerative disorder. While there is no curative treatment, the immune system’s involvement with autoimmune T cells that recognize the protein α-synuclein (α-syn) in a subset of individuals ...
Gregory P. Williams, Antoine Freuchet, Tanner Michaelis, April Frazier, Ngan K. Tran, João Rodrigues Lima-Junior, Elizabeth J. Phillips, Simon A. Mallal, Irene Litvan, Jennifer G. Goldman, Roy N. Alcalay, John Sidney, David Sulzer, Alessandro Sette, Cecilia S. Lindestam Arlehamn   +14 more
doaj   +1 more source

Microbial β-Glucosidase: sources, production and applications [PDF]

, 2017
Cellulose is the most abundant biopolymer in biosphere and the major constituent of plant biomass. Cellulose polymer is made up of β-glucose units linked by β-glucosidic bonds. Cellulase is an enzymatic system that catalyzes the hydrolysis of cellulose
Ahmed, Amer, Batool, Kashfa, Bibi, Aasia, Nasim Faiz, ul-Hassan   +3 more
core  

Clinical and Dopamine Transporter Imaging Characteristics of Leucine Rich Repeat Kinase 2 (LRRK2) and Glucosylceramidase Beta (GBA) Parkinson's Disease Participants in the Parkinson's Progression Markers Initiative: A Cross‐Sectional Study [PDF]

, 2020
Tanya Simuni, Michael C. Brumm, Liz Uribe, Chelsea Caspell‐Garcia, Christopher S. Coffey, Andrew Siderowf, Roy N. Alcalay, John Q. Trojanowski, Leslie M. Shaw, John Seibyl, Andrew Singleton, Arthur W. Toga, Doug Galasko, Tatiana Foroud, Kelly Nudelman, Duygu Tosun, Kathleen L. Poston, Daniel Weintraub, Brit Mollenhauer, Caroline M. Tanner, Karl Kieburtz, Lana M. Chahine, Alyssa Reimer, Samantha J. Hutten, Susan Bressman, Kenneth Marek, Parkinson's Progression Markers Initiative Investigators   +26 more
openalex   +1 more source

New Variant Mutation of Glucosylceramidase Beta (GBA) and Early Enzyme Replacement Therapy for Neuronopathic Gaucher Disease: A Case Report and Literature Review

, 2020
Daiji Takajo, Hiroshi Matsumoto, Takahiro Noguchi, Naoto Nishimura, Shigeaki Nonoyama   +4 more
openalex   +2 more sources

Mitochondrial dysfunction in NPC1 ‐deficiency is not rescued by drugs targeting the glucosylceramidase GBA2 and the cholesterol‐binding proteins TSPO and StARD1 [PDF]

Simon Wheeler, Meenakshi Bhardwaj, Victor Kenyon, Maria J. Ferraz, Johannes M. F. G. Aerts, Daniel J. Sillence   +5 more
openalex   +1 more source

Species-specific differences in nonlysosomal glucosylceramidase GBA2 function underlie locomotor dysfunction arising from loss-of-function mutations [PDF]

, 2019
Marina A. Woeste, Sina Stern, Diana N. Raju, Elena Grahn, Dominik Dittmann, Katharina Gutbrod, Peter Dörmann, Jan N. Hansen, Sophie Schonauer, Carina E. Marx, Hussein Hamzeh, Heinz G. Körschen, Johannes M. F. G. Aerts, Wolfgang Bönigk, Heike Endepols, Roger Sandhoff, Matthias Geyer, Thomas K. Berger, Frank Bradke, Dagmar Wachten   +19 more
openalex   +1 more source