Results 101 to 110 of about 9,571 (221)

Juvenile neuronal ceroid lipofuscinosis and education

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2013
Juvenile neuronal ceroid lipofuscinosis (JNCL) is characterized by severe visual impairment with onset around age 4-8 years, and a developmental course that includes blindness, epilepsy, speech problems, dementia, motor coordination problems, and emotional reactions. There is presently no cure and the disease leads to premature death.
von Tetzchner, Stephen, Fosse, Per, Elmerskog, Bengt   +2 more
openaire   +2 more sources

Loss of CLN7 results in depletion of soluble lysosomal proteins and impaired mTOR reactivation [PDF]

, 2018
Defects in the MFSD8 gene encoding the lysosomal membrane protein CLN7 lead to CLN7 disease, a neurodegenerative lysosomal storage disorder belonging to the group of neuronal ceroid lipofuscinoses (NCLs). Here we have performed a SILAC-based quantitative
Ariunbat, K, Brocke-Ahmadinejad, N, Danyukova, T, Mole, SE, Storch, S, Thelen, M   +5 more
core   +1 more source

A cluster of palmitoylated cysteines are essential for aggregation of cysteine-string protein mutants that cause neuronal ceroid lipofuscinosis [PDF]

, 2017
Autosomal-dominant adult-onset neuronal cero id lipofuscinosis (ANCL) is caused by mutation of the DNAJC5 gene encoding cysteine string protein alpha (CSP α ). The disease- causing mutations, which result in substituti on of leucine-115 with an arginine (
Chamberlain, Luke H., Diez Ardanuy, Cinta, Greaves, Jennifer, Munro, Kevin R., Tomkinson, Nicholas C.O.   +4 more
core   +1 more source

Data on characterizing the gene expression patterns of neuronal ceroid lipofuscinosis genes: CLN1, CLN2, CLN3, CLN5 and their association to interneuron and neurotransmission markers: Parvalbumin and Somatostatin

Data in Brief, 2016
The article contains raw and analyzed data related to the research article “Neuronal ceroid lipofuscinosis genes, CLN2, CLN3, CLN5 are spatially and temporally co-expressed in a developing mouse brain” (Fabritius et al., 2014) [1].
Helena M. Minye, Anna-Liisa Fabritius, Jouni Vesa, Leena Peltonen   +3 more
doaj   +1 more source

Translational neurophysiology in sheep:Measuring sleep and neurological dysfunction in CLN5 affected Batten disease sheep [PDF]

, 2015
This is the final published version of a paper originally published in BRAIN 2015: 138; 862?874, DOI: http://dx.doi.org/10.1093/brain/awv026Creating valid mouse models of slowly progressing human neurological diseases is challenging, not least because ...
Bartsch, Ullrich, Jones, Matt, Martins, Amadeu Q, Mitchell, Nadia L, Morton, A Jennifer, Palmer, David N, Perentos, Nicholas, Watson, Thomas C   +7 more
core   +2 more sources

The zDHHC family of S-acyltransferases [PDF]

, 2015
The discovery of the zDHHC family of S-acyltransferase enzymes has been one of the major breakthroughs in the S-acylation field. Now, more than a decade since their discovery, major questions centre on profiling the substrates of individual zDHHC enzymes
Chamberlain, Luke H., Diez Ardanuy, Cinta, Greaves, Jennifer, Lemonidis, Kimon, Salaun, Christine, Sanchez Perez, Maria C., Thomson, David M., Werno, Martin W.   +7 more
core   +1 more source

Clinically early-stage CSPα mutation carrier exhibits remarkable terminal stage neuronal pathology with minimal evidence of synaptic loss [PDF]

, 2015
Autosomal dominant adult-onset neuronal ceroid lipofuscinosis (AD-ANCL) is a multisystem disease caused by mutations in the DNAJC5 gene. DNAJC5 encodes Cysteine String Protein-alpha (CSPα), a putative synaptic protein.
Benitez, Bruno A, Cairns, Nigel J, Cruchaga, Carlos, Morris, John C, Norton, Joanne B, Sands, Mark S, Schmidt, Robert E   +6 more
core   +2 more sources

Exacerbated neuronal ceroid lipofuscinosis phenotype in Cln1/5 double-knockout mice

Disease Models & Mechanisms, 2013
SUMMARY Both CLN1 and CLN5 deficiencies lead to severe neurodegenerative diseases of childhood, known as neuronal ceroid lipofuscinoses (NCLs). The broadly similar phenotypes of NCL mouse models, and the potential for interactions between NCL proteins ...
Tea Blom, Mia-Lisa Schmiedt, Andrew M. Wong, Aija Kyttälä, Jarkko Soronen, Matti Jauhiainen, Jaana Tyynelä, Jonathan D. Cooper, Anu Jalanko   +8 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, Black, Michael A, Hughes, Stephanie M, Kay, Graham W, Linterman, Kathryn S, McFarlane, Robin G, Mitchell, Nadia L, Palmer, David N, Sands, Mark S   +8 more
core   +2 more sources

Ethosuximide ameliorates neurodegenerative disease phenotypes by modulating DAF-16/FOXO target gene expression [PDF]

, 2015
Background Many neurodegenerative diseases are associated with protein misfolding/aggregation. Treatments mitigating the effects of such common pathological processes, rather than disease-specific symptoms, therefore have general therapeutic potential ...
Barclay, Jeff W, Burgoyne, Robert D, Chen, Xi, Kashyap, Sudhanva S, Kraemer, Brian C, McCuef, Hannah V, Morgan, Alan, Wong, Shi Quan   +7 more
core   +1 more source