Results 131 to 140 of about 3,930 (214)

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

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

Presentation of ichthyosis after substrate reduction therapy in Gaucher type 1 [PDF]

We describe a case in which a type 1 Gaucher patient developed ichthyosis weeks after starting substrate reduction therapy (SRT) with eliglustat. There are no reports of ichthyosis in the literature in enzyme replacement or SRT for Gaucher disease ...
Herbster, Jack, Hoyer, Sheryl, Kuritza, Victoria, Prada, Carlos E., Quadri, Allegra, Rasmussen, Carly A., Viglione, Michael   +6 more
core   +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

Comparative analysis of the silk gland transcriptomes between the domestic and wild silkworms [PDF]

, 2015
Bi-Li Hu, Qiu-Zhong Zhou, Quan-You Yu, Shou-Min Fang, Ze Zhang   +4 more
core   +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

Resolving versus non-resolving sphingolipid dynamics during macrophage activation: a time-resolved metabolic analysis. [PDF]

J Lipid Res
Chiappa NF, Lal N, Botchwey EA.
europepmc   +1 more source

Editorial: Exploring gut neuroimmunology: focus on the enteric nervous system in health and disease. [PDF]

Front Neurosci
Otero-Losada M, Bhave S, Dora D.
europepmc   +1 more source

Досягнення у вивченні та лікуванні хвороби паркінсона в Україні [PDF]

, 2017
Грінкевич, В. М., Погоріла, І. О., Хольба, М. Ю.   +2 more
core