Results 51 to 60 of about 3,185 (196)

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A. Gustafson, Danny E. Miller, Kensuke Daida, Manabu Funayama, Nobutaka Hattori, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer, Kristian K. Ullrich, Christine Klein, Joanne Trinh   +17 more
wiley   +1 more source

AAV gene therapy for GBA1-related diseases

Molecular Therapy
Mutations in GBA1, the gene encoding glucocerebrosidase (GCase), are the most common risk factor for Parkinson's disease (PD). GBA-PD patients are a genetic subpopulation of PD carrying heterozygous mutations in GBA1. Additionally, bi-allelic mutations in GBA1 cause Gaucher disease (GD), a lysosomal storage disorder. Loss of GCase activity, a lysosomal
Swathi Ayloo, Jae Cheon Ryu, Shih-Ching Chou, Lydia Blatnik, Erik Wischhof, Jie Bu, Lilu Guo, Mahmud Hossain, Dhiman Ghosh, William McCarty, Ann Byrne, Lilly Chai, Jennifer Clarke, Can Kayatekin, Bailin Zhang, S. Pablo Sardi, Martin Goulet, Bradford Elmer, Christian Mueller, Shyam Ramachandran   +19 more
openaire   +2 more sources

Impact of Gba2 on neuronopathic Gaucher’s disease and α-synuclein accumulation in medaka (Oryzias latipes)

Molecular Brain, 2021
Homozygous mutations in the lysosomal glucocerebrosidase gene, GBA1, cause Gaucher’s disease (GD), while heterozygous mutations in GBA1 are a strong risk factor for Parkinson’s disease (PD), whose pathological hallmark is intraneuronal α-synuclein (asyn)
Etsuro Nakanishi, Norihito Uemura, Hisako Akiyama, Masato Kinoshita, Sawamura Masanori, Yosuke Taruno, Hodaka Yamakado, Shu-ichi Matsuzawa, Shunichi Takeda, Yoshio Hirabayashi, Ryosuke Takahashi   +10 more
doaj   +1 more source

Prodromal Lewy Body Disorder Features in REM Sleep Behavior Disorder With Biomarker‐Defined Synucleinopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Isolated rapid eye movement sleep behavior disorder (iRBD) is a prodromal state for Lewy body disorders and exhibits biological heterogeneity that may influence clinical expression and progression. We examined clinical features in individuals with iRBD and biomarker‐defined synucleinopathy.
Daniel Weintraub, Michele K. York, Roseanne Dobkin, Anuprita R. Nair, Ryan Kurth, David‐Erick Lafontant, Chelsea Caspell‐Garcia, Roy N. Alcalay, Ethan G. Brown, Lana M. Chahine, Christopher Coffey, Tatiana Foroud, Douglas Galasko, Karl Kieburtz, Kenneth Marek, Kalpana Merchant, Brit Mollenhauer, Kathleen L. Poston, Andrew Siderowf, Cristina Simonet, Tanya Simuni, Caroline M. Tanner, Thomas F. Tropea, Aleksandar Videnovic, The Parkinson's Progression Markers Initiative   +24 more
wiley   +1 more source

Generation and Treatment of a Novel Severe Model of Visceral Gaucher Disease by Genetic Therapy

Pharmaceutics
Background/Objectives: Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder caused by mutations in the GBA1 gene. Type 1 Gaucher disease is characterised by substrate accumulation in the visceral organs, which occurs in combination ...
Amy F. Geard, Giulia Massaro, Michael P. Hughes, Patrick Arbuthnot, Simon N. Waddington, Ahad A. Rahim   +5 more
doaj   +1 more source

Generation and characterization of induced pluripotent stem cells from a Parkinson’s disease patient carrying the digenic LRRK2 p.G2019S and GBA1 p.N409S mutations

Stem Cell Research, 2023
We describe an induced pluripotent stem cell (iPSC) line that was derived from fibroblasts obtained from a Parkinson’s disease (PD) patient carrying the p.G2019S mutation in the LRRK2 gene and the p.N409S mutation in the GBA1 gene.
Christiane Oleksy, François Massart, Stefano Goldwurm, Alessia Arado, Giuseppe Arena, Ibrahim Boussaad, Rejko Krüger   +6 more
doaj   +1 more source

Cumulative Antigen Suppression Reduces Clonal Plasma Cell Evolution in Gaucher Disease

American Journal of Hematology, EarlyView.
ABSTRACT Chronic antigenic stimulation is implicated in the pathogenesis of monoclonal gammopathy and multiple myeloma, yet longitudinal human evidence linking sustained antigen exposure to modifiable clonal plasma cell evolution remains limited. Gaucher disease (GD), caused by biallelic GBA1 pathogenic variants, is characterized by accumulation of ...
Noor Ul Ain, Noffar Bar, Lilu Guo, Katherine Klinger, Punita Gupta, Atta Ur Rahman, Ruhua Yang, Yanhong Deng, Natalia Neparidze, Shiny Nair, Pramod K. Mistry   +10 more
wiley   +1 more source

Impact of GBA1 variants on long-term clinical progression and mortality in incident Parkinson's disease.

, 2020
INTRODUCTION: Variants in the GBA1 gene have been identified as a common risk factor for Parkinson's disease (PD). In addition to pathogenic mutations (those associated with Gaucher disease), a number of 'non-pathogenic' variants also occur at increased ...
Breen, DP, Stoker, Thomas B, Foltynie, Thomas, Winder-Rhodes, S, Evans, Jonathan, Williams-gray, Caroline H, Winder-rhodes, Sophie, Stoker, TB, Barker, Roger A, Camacho, Marta, Liu, G, Scherzer, CR, Evans, J, Williams-Gray, CH, Barker, RA, Foltynie, T, Scherzer, Clemens R, Liu, Ganqiang, Breen, David P, Camacho, M   +19 more
core   +1 more source

Diffusion MRI and α‐Synuclein Seed Amplification Status in Parkinson's Disease

Annals of Neurology, EarlyView.
Objective Positive α‐synuclein seed amplification assay (SAA) is a biomarker found in most people with Parkinson's disease (PD). We explored if free‐water (FW) imaging detects microstructural differences in the brains of patients with early PD with SAA+ or SAA– status.
Shannon Y. Chiu, Wei‐en Wang, Robin Chen, Jesse C. DeSimone, Derek B. Archer, Charles H. Adler, Shyamal H. Mehta, Sara R. Dresler, Melissa J. Armstrong, Nikolaus McFarland, Michael Okun, David E. Vaillancourt, Parkinson's Progression Markers Initiative, Neha Prakash, Tanya Simuni, Nabila Dahodwala, Caroline Tanner, Lana Chahine, Brit Mollenhauer, Anat Mirelman, Roy Alcalay; Katherine Leaver, Marie Saint‐Hilaire, Ruth Schneider, Christopher Tarolli, Werner Poewe, Aleksandar Videnovic, David Standaert, Marissa Dean, Sonja Jonsdottir, Rejko Krueger, Claire Pauly, Stewart Factor, Penelope Hogarth, Robert Hauser, Amy Amara, Michelle Fullard, Cyrus Zabetian, Hubert Fernandez, Kathrin Brockmann, Isabel Wurster, Yen Tai, Paolo Barone, Marina Picillo, Stuart Isaacson, Alberto Espay, Eduardo Tolosa, Javier Ruiz Martinez, Leonidas Stefanis, Kelvin Chou, Lorraine Kalia, Connie Marras, David Grimes, Tiago Mestre, Rajesh Pahwa, Mark Lew, Holly Shill, Shyamal Mehta, Giulietta Riboldi, Nikolaus McFarland, Ron Postuma, Zoltan Mari, David Ledingham, Nicola Pavese, Michele Hu, Norbert Brueggemann, Christine Klein, Bastiaan Bloem, Cristina Simonet, Alastair Noyce, Anette Janzen, David Pedrosa, Wolfgang Oertel, Njideka Okubadejo, David Shprecher, Arjun Tarakad, Emile Moukheiber, Joy Antala, Carla Aranda, Karen Williams, Sophia Melton, Karina Benson, Ashwini Ramachandran, Danielle Potts, Grace LaMoure, Ritikha Vengadesh, Ryan Manzler, Jaime Heller, Primi Ranola, Farah Kausar, Sherri Mosovsky, Diana Willeke, Elizabeth Kalinkara Gomez, Janelle Rodriguez, Nobuko Kemmotsu, May Eshel, Deborah Raymond, Abigail Desrosiers, Raymond James, Lauren Jackson, Iris Egner, Wesley Schlett, Courtney Blair, Lauren Ruffrage, Berenice Sevilla, Barbara Sommerfeld, Dustin Le, Erica Botting, Gabriella Mazur, Daniele Derlein, Ying Liu, Ciera Cobb, Olivia Masiewicz, Jennifer Mule, Michael Morsillo, Ella Hilt, Lisbeth Pennente, Bobbie Stubbeman, Alicia Garrido, Valeria Ravasi, Ioana Croitoru, Christos Koros, Nikolas Papagiannakis, Frank Ferrari, Mengyu Zheng, Shawna Reddie, Alicia Alejandra, Andrea Gray, Alejandra Valenzuela, Caitlin Goodman, Sara Dresler, Neil Santos, Fahrial Esha, Kyle Rizer, Nadine Zablith, Liliana Dumitrescu, Debra Galley, Victoria Kate Foster, Jamil Razzaque, Madita Grümmer, Yara Krasowski, Elisabeth Sittig, Oluwadamilola Ojo, Kelly Clark, Rory Mahabir, Kori Ribb, Shamera Willoughby   +145 more
wiley   +1 more source

pH‐Responsive Trihydroxylated Piperidines Rescue The Glucocerebrosidase Activity in Human Fibroblasts Bearing The Neuronopathic Gaucher‐Related L444P/L444P Mutations in GBA1 Gene

ChemBioChem, 2023
AbstractEngineering bioactive iminosugars with pH‐responsive groups is an emerging approach to develop pharmacological chaperones (PCs) able to improve lysosomal trafficking and enzymatic activity rescue of mutated enzymes. The use of inexpensive l‐malic acid allowed introduction of orthoester units into the lipophilic chain of an enantiomerically pure
Maria Giulia Davighi, Camilla Matassini, Francesca Clemente, Paolo Paoli, Amelia Morrone, Martina Cacciarini, Andrea Goti, Francesca Cardona   +7 more
openaire   +4 more sources