Results 111 to 120 of about 2,570 (187)

Mitochondrial dysfunction and mitophagy defect triggered by heterozygous GBA mutations

, 2018
Heterozygous mutations in GBA, the gene encoding the lysosomal enzyme glucosylceramidase beta/β-glucocerebrosidase, comprise the most common genetic risk factor for Parkinson disease (PD), but the mechanisms underlying this association remain unclear ...
Donghoon Kim (832917), Ottavio Arancio (53455), Sheng-Han Kuo (292031), Ellen Kanter (5702261), Guomei Tang (292032), Ahrom Ham (580182), Sergio Pablo Sardi (8200203), Hongyu Li (1332669), Thong Chi Ma (5702258), Han Seok Ko (8200200), David Sulzer (86849), Yi Quan (507988), Un Jung Kang (5702264), Aiqun Li (289891)   +13 more
core   +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

Non-Lysosomal Glucosylceramidase [PDF]

, 2020
openaire   +1 more source

Skin lipid abnormalities in Gaucher's disease

, 2000
In the epidermis of terrestrial vertebrates stratum corneum lipids are known to play an important role as regulators of skin permeability; particularly ceramides, some of which with very long chain, hydroxy fatty acids, are important components of this ...
G. Montorfano, S. Rapelli, L. Adorni, B. Berra, S. Zava, R. Ciuffo   +5 more
core  

Structural analysis of saposin C and B. Complete localization of disulfide bridges.

, 1995
Saposins A, B, C, and D are a group of homologous glycoproteins derived from a single precursor, prosaposin, and apparently involved in the stimulation of the enzymatic degradation of sphingolipids in lysosomes. All saposins have six cysteine residues at
Ciaffoni F, Tatti M, Barca A, AMORESANO, ANGELA, PUCCI, PIETRO, Maras B, Salvioli R, Siciliano R, Zappacosta F, Vaccaro AM   +9 more
core  

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

Immune system role on gaucher disease

, 2013
Trabalho Final de Mestrado Integrado, Ciências Farmacêuticas, Universidade de Lisboa, Faculdade de Farmácia, 2014The Gaucher Disease (GD) is the most prevalent lysosomal illness in humans and it is caused by the deficiency in the enzyme ...
Duarte, André Alexandre Rodrigues Besouro
core   +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

Diagnosis and follow-up of the first case of Gaucher disease under enzyme replacement therapy in Senegal. [PDF]

Ghana Med J
Keita M, Faye BF, Senghor AB, Diallo AB, Bousso ES, Touré SA, Seck M, Diop S.   +7 more
europepmc   +1 more source