Results 61 to 70 of about 2,368 (129)

Glucocerebrosidase deficiency leads to neuropathology via cellular immune activation.

PLoS Genetics
Mutations in GBA (glucosylceramidase beta), which encodes the lysosomal enzyme glucocerebrosidase (GCase), are the strongest genetic risk factor for the neurodegenerative disorders Parkinson's disease (PD) and Lewy body dementia.
Evelyn S Vincow, Ruth E Thomas, Gillian Milstein, Gautam Pareek, Theo K Bammler, James MacDonald, Leo J Pallanck   +6 more
doaj   +1 more source

Biodistribution of AAV1, AAV5, AAV9, and AAVDJ serotypes after intra-cisterna magna delivery in non-human primates

Molecular Therapy: Methods & Clinical Development
Delivering drugs effectively to the central nervous system (CNS) is a major challenge in drug development, including adeno-associated virus (AAV) gene therapy.
Takuro Okai, Sho Sato, Hironobu Yasuno, Miyu Nakayama, Syunsuke Yamamoto, Sebastian Sjöqvist, Kentaro Otake, Masato Nakashima, Mugdha Deshpande, Elizabeth Galbreath, Jeong-Ho Oak, Saku Miyamoto, Gabriele Proetzel   +12 more
doaj   +1 more source

Visualization of Active Glucocerebrosidase in Rodent Brain with High Spatial Resolution following In Situ Labeling with Fluorescent Activity Based Probes.

PLoS ONE, 2015
Gaucher disease is characterized by lysosomal accumulation of glucosylceramide due to deficient activity of lysosomal glucocerebrosidase (GBA). In cells, glucosylceramide is also degraded outside lysosomes by the enzyme glucosylceramidase 2 (GBA2) of ...
Daniela Herrera Moro Chao, Wouter W Kallemeijn, Andre R A Marques, Marie Orre, Roelof Ottenhoff, Cindy van Roomen, Ewout Foppen, Maria C Renner, Martina Moeton, Marco van Eijk, Rolf G Boot, Willem Kamphuis, Elly M Hol, Jan Aten, Hermen S Overkleeft, Andries Kalsbeek, Johannes M F G Aerts   +16 more
doaj   +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

Extracellular vesicles as minimally invasive biomarkers and therapeutic platforms in rare neurological diseases

Frontiers in Aging
Rare neurological diseases (RND) represent a growing but underrecognized global health burden, particularly in aging populations in whom clinical manifestations appear later in life, resulting in substantial morbidity, reduced quality of life, and ...
Nathan D. Phan, Raghu Rai Sharma, Subbaya Subramanian, Reena V. Kartha   +3 more
doaj   +1 more source

Early⁃onset Parkinson's disease caused by LRRK2 R1067Q and GBA R202Q variation: one case report

Chinese Journal of Contemporary Neurology and Neurosurgery
LIU Chen, GAN Jing, ZHANG Yu, LIU Zhen‑guo   +3 more
doaj   +1 more source

Phenotypic Spectrum of Type 2-3 Gaucher Disease: A Case Study in the Balkan Genotype. [PDF]

Am J Case Rep
Cullufi P, Velmishi V, Dervishi E, Tomori S, Hoxha G, Jazexhiu-Postoli E, Basha E, Tako AK, Tabaku M.   +8 more
europepmc   +1 more source

GBA3 as a regulator of sphingolipid metabolism in the progression of hepatocellular carcinoma. [PDF]

J Gastrointest Oncol
Wang X, Li L, Sun T, Qiu Z.
europepmc   +1 more source