Results 71 to 80 of about 14,087 (142)

Transcriptomic signatures in peripheral CD4+T-lymphocytes may reflect melanoma staging and immunotherapy responsiveness prior to ICI initiation

Frontiers in Immunology
Background and purposePromoting adaptive immunity with ICIs has drastically improved melanoma prognosis, but not for all patients. Some cases relapse in the first few months, while others keep durable benefit, even after immunotherapy discontinuation. To
Eleni Palli, Matthieu Lavigne, Panagiotis Verginis, Themis Alissafi, Amalia Anastasopoulou, Georgios Lyrarakis, John M. Kirkwood, Helen Gogas, Dimitrios C. Ziogas   +8 more
doaj   +1 more source

GBA2 Gene [PDF]

, 2020
openaire   +1 more source

GBA2 wt Allele [PDF]

, 2020
openaire   +1 more source

Paraparesia espástica SPG-46 por mutación de GBA2: a propósito del primer caso descrito en España

Neurología, 2023
C. Cores Bartolomé, E. Rubio Nazábal, M.J. Sobrido, C. Pérez Sousa   +3 more
doaj   +1 more source

Investigating the GBA1-dependent regulation of GBA2 activity in Gaucher disease

, 2017
Glycosphingolipids (GSLs) are a large and heterogeneous class of lipids, whose function is equally versatile and complex. They consist of a membrane anchor, ceramide, and different kinds of sugar head groups. Glucosylceramide (GlcCer) is the simplest GSL and serves as a building block for the synthesis of more complex GSLs. GlcCer is degraded either in
openaire   +2 more sources

SPG46 spastic paraplegia due to GBA2 mutation: description of the first case in Spain

Neurología (English Edition), 2023
C. Cores Bartolomé, E. Rubio Nazábal, M.J. Sobrido, C. Pérez Sousa   +3 more
openaire   +1 more source

Refining Mouse Models of Gaucher Disease: Advancing Mechanistic Insights, Biomarker Discovery, and Therapeutic Strategies. [PDF]

Int J Mol Sci
Fattahi N, Ruan J, Belinsky G, Xing S, Mistry PK, Nair S.   +5 more
europepmc   +1 more source

Impact of Sinbaglustat on Neurons of the Medial Nucleus of the Trapezoid Body in a Murine Model of Human G_M1-Gangliosidosis. [PDF]

J Clin Med
Jubran L, Wannemacher R, Baumgärtner W, Felmy F, Steiner MA, Leitzen E, Kladisios N.   +6 more
europepmc   +1 more source

Genome-Wide Analysis of DNA Methylation Signatures Linking Prenatal Exposure to the Chinese Great Famine and Blood Lipids in Late Adulthood: The Genomic Research of the Chinese Famine (GRECF) Study. [PDF]

Nutrients
Wang H, Shen L, Liu T, Zhang R, Wang Z, Wei J, Shen Y, Guo J, Miles T, Li C, Zou Z.   +10 more
europepmc   +1 more source

Application of CRISPR/Cas9 technology in the modeling of Gaucher disorder. [PDF]

Biochem Biophys Rep
Reyhani-Ardabili M, Fathi M, Ghafouri-Fard S.   +2 more
europepmc   +1 more source