Results 121 to 130 of about 940,251 (149)

Clinical and genetic landscape of neuronopathic gaucher disease in Ukraine: hepatosplenomegaly and diagnostic delay. [PDF]

Orphanet J Rare Dis
Samonenko N, Olkhovych N, Okhotnikova O, Gorovenko N.   +3 more
europepmc   +1 more source

Direct and indirect regulation of β-glucocerebrosidase by the transcription factors USF2 and ONECUT2

Ging K, Frick L, Schlachetzki J, Armani A, Zhu Y, Gilormini P, Marques A, Dhingra A, Böck D, Deen M, Chen X, Serdiuk T, Trevisan C, Sellitto S, Pisano C, Glass CK, Heutink P, Yin J, Vocadlo DJ, Aguzzi A.   +19 more
europepmc   +1 more source

Diagnostic Challenge of Pediatric Gaucher Disease in a Low-Resource South Asian Setting: A Case Report. [PDF]

Clin Case Rep
Waqas M, Bano R, Haider MU, Abhishek K, Mehmood A, Abbas A, Ali A, Basheer T, Altaf RM, Samadi Y.   +9 more
europepmc   +1 more source

Extended Deletion in the <i>GBA1</i> Gene, Masked by Apparent p.Asn409Ser Homozygous: Diagnostic Implications and the Need for an Integrated Genetic Approach. [PDF]

Int J Mol Sci
Anania M, Giacomarra M, Palumbo G, D'Errico A, Marsana EM, Palladino S, Sforzini G, Francofonte D, Colomba P, Duro G, Zizzo C.   +10 more
europepmc   +1 more source

Delayed Diagnosis of Type 1 Gaucher Disease at Age 15 After Years of Mild Cytopenias and Splenomegaly: A Case Report and Long-Term Follow-Up. [PDF]

Am J Case Rep
Muras-Szwedziak K, Kasznicki J, Wegner O, Wójcik M, Wojtyczka O.   +4 more
europepmc   +1 more source

Genetic Architecture of Synaptic Failure in Dementia with Lewy Bodies: From α-Synuclein Proteoforms to GBA1-Mediated Plasticity Deficits. [PDF]

Genes (Basel)
Bougea A.
europepmc   +1 more source

Long-term inhibition of lysosomal glucocerebrosidase activity promotes GPX4 stability and inhibits ferroptosis in dopaminergic neurons. [PDF]

Cell Death Dis
Bonte MA, Gouel F, Jonneaux A, Belarbi K, Devos D, Devedjian JC.   +5 more
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

Cerebrospinal fluid β-glucocerebrosidase activity is reduced in parkinson's disease patients

Movement Disorders, 2017
Background: Reduced β-glucocerebrosidase activity was observed in postmortem brains of both GBA1 mutation carrier and noncarrier Parkinson's disease patients, suggesting that lower β-glucocerebrosidase activity is a key feature in the pathogenesis of PD.
Lucilla Parnetti, Anna Tasegian, Andrea Dardis   +2 more
exaly   +3 more sources