Results 111 to 120 of about 7,161 (190)

Deep sequencing of SMPD1 gene revealed a heterozygous frameshift mutation (p.Ser192Alafs) in a Palestinian infant with Niemann–Pick disease type A: a case report

open access: yesJournal of Medical Case Reports, 2018
Background Niemann–Pick disease is caused by reduced level of the lysosomal enzyme acid sphingomyelinase. Children can survive between 2 and 12 years based on the disease type. Two main types are well known: type A and B.
Abedelmajeed Nasereddin, Suheir Ereqat
doaj   +1 more source

Ruolo del sistema ubiquitina-proteasoma (UPS) nella disfunzione beta cellulare del diabete di tipo 2 e possibili opzioni terapeutiche. [PDF]

open access: yes, 2011
Ruolo del sistema ubiquitina-proteasoma (UPS) nella disfunzione beta cellulare del diabete di tipo 2 e possibili opzioni terapeutiche. Sebbene la disfunzione beta cellulare rivesta un ruolo di primaria importanza nel diabete di tipo 2, le informazioni ad
BUGLIANI, MARCO
core  

Choroid plexus modulates subventricular zone adult neurogenesis and olfaction through secretion of small extracellular vesicles

open access: yesFluids and Barriers of the CNS
The choroid plexus (CP) in the brain ventricles secretes cerebrospinal fluid (CSF) that bathes the adjacent subventricular zone (SVZ). As the largest adult neurogenic region enriched with neural stem/progenitor cells (NSPCs), the SVZ supplies newborn ...
Luke L. Liu   +2 more
doaj   +1 more source

Accelerated Sarcopenia Phenotype in the DJ-1/Park7-Knockout Zebrafish

open access: yesAntioxidants
Age-dependent loss of muscle mass and function is associated with oxidative stress. DJ-1/Park7 acts as an antioxidant through multiple signalling pathways.
Kristine O. Rostad   +4 more
doaj   +1 more source

Interleukin-1ß activates a short STAT-3 isoform in clonal insulin-secreting cells [PDF]

open access: yes, 1998
Interleukin-1ß (IL-1ß) is a potent inflammatory cytokine involved in type 1 diabetes and acts through defined IL-1ß signaling pathways. In the present work we describe induction of DNA binding activity to signal transducer and activator of ...
Cawthorne, M.A.   +3 more
core   +1 more source

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