Repurposing of tamoxifen ameliorates CLN3 and CLN7 disease phenotype
EMBO Molecular Medicine, 2021 Batten diseases (BDs) are a group of lysosomal storage disorders characterized by seizure, visual loss, and cognitive and motor deterioration. We discovered increased levels of globotriaosylceramide (Gb3) in cellular and murine models of CLN3 and CLN7 ...
Chiara Soldati +22 more
doaj +1 more source
Lentiviral-mediated gene transfer to the sheep brain: Implications for gene therapy in batten disease [PDF]
, 2011 The neuronal ceroid lipofuscinoses (NCLs; Batten disease) are inherited neurodegenerative lysosomal storage diseases with common clinical features of blindness and seizures culminating in premature death. Gene-therapy strategies for these diseases depend
Barry, Lucy A +8 more
core +2 more sources
A Functionally Conserved Enhancer is Critical for PGC1A Expression and Thermogenesis in Brown Fat
Advanced Science, EarlyView.An evolutionarily conserved enhancer controls PGC1A expression and thermogenic activation in brown adipose tissue. Integrative multi‐omics analyses identify two BAT‐specific enhancers, with PGC1A‐En1 functioning as the dominant regulatory element that maintains thermogenic capacity across species.
Duo Su +10 more
wiley +1 more source
A multi-exon-skipping detection assay reveals surprising diversity of splice isoforms of spinal muscular atrophy genes. [PDF]
PLoS ONE, 2012 Humans have two near identical copies of Survival Motor Neuron gene: SMN1 and SMN2. Loss of SMN1 coupled with the predominant skipping of SMN2 exon 7 causes spinal muscular atrophy (SMA), a neurodegenerative disease.
Natalia N Singh +3 more
doaj +1 more source
A synthetic biology approach for a vaccine platform against known and newly emerging serotypes of bluetongue virus [PDF]
, 2014 Bluetongue is one of the major infectious diseases of ruminants and is caused by Bluetongue virus (BTV), an arbovirus existing in nature in at least 26 distinct serotypes. Here, we describe the development of a vaccine platform for BTV.
Brunet, Silvie +6 more
core +2 more sources
Decoding Naturalistic Episodic Memory with Artificial Intelligence and Brain‐Machine Interface
Advanced Science, EarlyView.Episodic memory weaves together what, where, and when of experience into a personal narrative. Cutting‐edge AI models may decode this intricate process in real‐life settings, revealing how neural activity encodes naturalistic memories. By merging AI with brain–machine interfaces, researchers are edging closer to mapping and even engineering memory ...
Dong Song
wiley +1 more source
Loss of the lysosomal protein CLN3 triggers c-Abl-dependent YAP1 pro-apoptotic signaling
EMBO ReportsBatten disease is characterized by early-onset blindness, juvenile dementia and death within the second decade of life. The most common genetic cause are mutations in CLN3, encoding a lysosomal protein.
Neuza Domingues +13 more
doaj +1 more source
The CLN3 gene and protein: What we know
Molecular Genetics & Genomic Medicine, 2019 Background One of the most important steps taken by Beyond Batten Disease Foundation in our quest to cure juvenile Batten (CLN3) disease is to understand the State of the Science. We believe that a strong understanding of where we are in our experimental
Myriam Mirza +11 more
doaj +1 more source
Seroprevalence of bluetongue serotype 8 in cattle in the Netherlands in spring 2007, and its consequences [PDF]
, 2008 A cross-sectional study was carried out in spring 2007, at the end of the first bluetongue outbreak season, to determine the geographical spread of bluetongue virus serotype 8 (BTV-8) infection in cattle in the Netherlands and the consequences for some ...
Berends, I.M.G.A. +4 more
core +2 more sources
Advanced Science, EarlyView.We demonstrate that Cars2, a cysteine catabolic enzyme in mouse iBAT, is critical for cold tolerance and brown adipocyte differentiation. Through its CPERS activity, Cars2 produces CysSSH/H2S to induce EBF2 persulfidation, promoting its interaction with PPARγ and BRG1 to enhance thermogenic gene expression.
Xin Peng +8 more
wiley +1 more source