Results 81 to 90 of about 940,251 (149)

Rare‐Variant Burden across Lysosomal Genes Implicates Sialylation and Ganglioside Metabolism in Parkinson's Disease

Movement Disorders, Volume 41, Issue 9, Page 2349-2356, September 2026.
Abstract Background Lysosomal dysfunction is central to Parkinson's disease (PD) pathogenesis, with GBA1 representing the strongest established genetic risk factor. Numerous other genes involved in lysosomal sphingolipid, glycosphingolipid, and ceramide metabolism have been proposed as contributors to PD, highlighting the need for genetic analyses ...
Konstantin Senkevich, Sitki Cem Parlar, Cloe Chantereault, Lang Liu, Eric Yu, Uladzislau Rudakou, Jamil Ahmad, Jennifer A. Ruskey, Farnaz Asayesh, Dan Spiegelman, Cheryl Waters, Oury Monchi, Yves Dauvilliers, Nicolas Dupré, Lior Greenbaum, Sharon Hassin‐Baer, Irina Miliukhina, Alla Timofeeva, Anton Emelyanov, Sofya Pchelina, Roy N. Alcalay, Ziv Gan‐Or   +21 more
wiley   +1 more source

Pharmacological Chaperones and Coenzyme Q10 Treatment Improves Mutant β-Glucocerebrosidase Activity and Mitochondrial Function in Neuronopathic Forms of Gaucher Disease [PDF]

, 2015
Gaucher disease (GD) is caused by mutations in the GBA1 gene, which encodes lysosomal β-glucocerebrosidase. Homozygosity for the L444P mutation in GBA1 is associated with high risk of neurological manifestations which are not improved by enzyme ...
Oropesa Ávila, Manuel, Ybot González, Patricia, Cotán, David, Cordero Morales, Mario David, Garrido Maraver, Juan, García Fernández, José Manuel, Mata, Mario de la, Ortiz Mellet, Carmen   +7 more
core   +1 more source

A Case of Adult Type 1 Gaucher Disease Complicated by Temporal Intestinal Hemorrhage

Case Reports in Gastroenterology, 2013
A 21-year-old man with a history of sudden rectal hemorrhage was referred to our hospital. Examination disclosed thrombocytopenia and hepatosplenomegaly. A liver biopsy specimen demonstrated Gaucher cells in Glisson's capsule.
Junitsu Ito, Takafumi Saito, Chikahiko Numakura, Akiko Iwaba, Shinpei Sugahara, Rika Ishii, Chikako Sato, Hiroaki Haga, Kazuo Okumoto, Yuko Nishise, Hisayoshi Watanabe, Hiroyuki Ida, Kiyoshi Hayasaka, Hitoshi Togashi, Sumio Kawata, Yoshiyuki Ueno   +15 more
doaj   +1 more source

Glycosylation and functionality of recombinant β-glucocerebrosidase from various production systems

, 2020
Synopsis The glycosylation of recombinant β-glucocerebrosidase, and in particular the exposure of mannose residues, has been shown to be a key factor in the success of ERT (enzyme replacement therapy) for the treatment of GD (Gaucher disease ...
Salit Tzaban, Yoseph Shaaltiel, Tali Kizhner, Myriam Golembo, Mariana Hainrichson, Yoram Tekoah, David Aviezer, Anna Gantman   +7 more
core  

Cognitive impairment in Glucocerebrosidase (GBA)-associated PD: Not primarily associated with cerebrospinal fluid Abeta and Tau profiles

, 2017
A proportion of idiopathic Parkinson's disease patients (PDidiopathic ) with dementia show altered CSF profiles of amyloid β (Aβ) and Tau. PD patients with Glucocerebrosidase (GBA) mutations (PDGBA ) present with even more cognitive decline than seen in ...
Henrik Zetterberg, Ann-Kathrin Hauser, Pilotto, A, Hauser, A-K, Elke Stransky, Tim W. Rattay, Maetzler, W, Christian Deuschle, Inga Liepelt-Scarfone, Csoti, I, Hauser, Ann-Kathrin, Schulte, Claudia, Claudia Schulte, Maetzler, Walter, Berg, Daniela, Brockmann, K, Zetterberg, Henrik,, Thomas Gasser, Stefanie Lerche, Brockmann, Kathrin, Ilona Csoti, Liepelt-Scarfone, I, Karin Srulijes, Stransky, Elke, Ingolf Lachmann, Deuschle, Christian, Andrea Pilotto, Gasser, T, Berg, D, Lachmann, Ingolf, Schulte, C, Deuschle, C, Rattay, Tim W, Csoti, Ilona, Zetterberg, H, Srulijes, K, Zetterberg, Henrik, Walter Maetzler, Rattay, TW, Liepelt-Scarfone, Inga, Daniela Berg, Pilotto, Andrea, Stransky, E, Kathrin Brockmann, Gasser, Thomas, Lerche, Stefanie, Srulijes, Karin, Lerche, S, Lachmann, I   +48 more
core   +1 more source

Generation of an integration-free iPSC line, ICCSICi005-A, derived from a Parkinson's disease patient carrying the L444P mutation in the GBA1 gene

Stem Cell Research, 2019
The L444P mutation in the GBA1 gene which encodes β-glucocerebrosidase-1, is a major risk factor for developing Parkinson's disease (PD) and dementia with Lewy bodies (DLB).
Eva Rodríguez-Traver, César Rodríguez, Eva Díaz-Guerra, Fabián Arenas, Marcos Araúzo-Bravo, María Orera, Jaime Kulisevsky, Rosario Moratalla, Carlos Vicario   +8 more
doaj   +1 more source

Glucosylsphingosine affects mitochondrial function in a neuronal cell model

Communications Biology
Gaucher disease arises from mutations in glucocerebrosidase resulting in accumulation of glucosylceramide, which is deacylated to glucosylsphingosine.
Valeria Nikolaenko, Reddy Vootukuri, Simon Eaton, Jenny Hällqvist, Tomas Baldwin, Kevin Mills, Wendy Heywood   +6 more
doaj   +1 more source

Genetic and clinical characteristics of Filipino patients with Gaucher disease

Molecular Genetics and Metabolism Reports, 2018
Gaucher disease (GD) is a lysosomal storage disorder caused by the deficiency of the β-glucocerebrosidase enzyme due to disease causing mutations in the GBA1 (glucosidase beta acid) gene, leading to the abnormal accumulation of the lipid glucocerebroside
Mary Anne D. Chiong, Marie Julianne C. Racoma, Mary Ann R. Abacan   +2 more
doaj   +1 more source

Lysosomal beta-Glucocerebrosidase Activity Measured by Multiple Methods.

, 2016
Glucocerebrosidase activity in healthy (GM14643) and two Gaucher I cell lines (GM10870,GM10874 containing the N370S mutation) was measured by staining with (4) and image analysis by flow cytometry as well as by using a standard 4-methylumbelliferyl β-D ...
Breanna Michelle Mohr (3168264), Jason Scott Lusk (3168258), Fiona Karen Harlan (3168252), Robert Hardy Batchelor (3168261), Ying Jiang (5910), John Joseph Naleway (3168255), Anthony Peter Guzikowski (3168249)   +6 more
core   +1 more source

Molecular analysis and expression of the human glucocerebrosidase gene [PDF]

, 2017
Gaucher disease is the most prevalent lysosomal lipid storage disease caused by deficient glucocerebrosidase activity. It is transmitted as an autosomal recessive trait.
Wei, Chao
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