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DNAJC5
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DnaJ homolog subfamily C member 5 (Ceroid-lipofuscinosis neuronal protein 4) (Cysteine string protein) (CSP) [CLN4] ==Publications== {{medline-entry |title=Gene Therapy of Adult Neuronal Ceroid Lipofuscinoses with CRISPR/Cas9 in Zebrafish. |pubmed-url=https://pubmed.ncbi.nlm.nih.gov/28478735 |abstract=Adult-onset neuronal ceroid lipofuscinosis (ANCL), one of the neuronal ceroid lipofuscinosis (NCLs), is an inherited neurodegenerative disorder with progressive neuronal dysfunction. Recently, mutations in the [[DNAJC5]] gene that encodes cysteine-string protein alpha (CSPα) have been reported to be associated with familial autosomal-dominant ANCL (AD-ANCL). This study constructed an ANCL transgenic zebrafish model expressing the human mutant [[DNAJC5]] (m[[DNAJC5]]) gene under the control of a zebrafish neuron-specific promoter. To investigate whether gene therapy based on genome-editing technology could treat ANCL, a panel of TALEN and Cas9 nucleases was designed to disrupt the m[[DNAJC5]] gene in this transgenic animal model. By screening these nucleases, it was found that one nuclease that targeted the 5' coding region efficiently alleviated m[[DNAJC5]] protein aggregates in the affected neurons. Therefore, this study provides a gene therapy strategy via the use of the CRISPR/Cas9 system to treat neural genetic diseases. |mesh-terms=* Aging * Animals * Animals, Genetically Modified * Base Sequence * CRISPR-Cas Systems * Disease Models, Animal * Female * Genetic Therapy * HSP40 Heat-Shock Proteins * Humans * Male * Membrane Proteins * Neuronal Ceroid-Lipofuscinoses * Neurons * RNA, Messenger * Transcription Activator-Like Effector Nucleases * Zebrafish * Zebrafish Proteins |keywords=* ANCL * CRISPR/Cas9 * gene therapy |full-text-url=https://sci-hub.do/10.1089/hum.2016.190 }} {{medline-entry |title=Caenorhabditis elegans dnj-14, the orthologue of the [[DNAJC5]] gene mutated in adult onset neuronal ceroid lipofuscinosis, provides a new platform for neuroprotective drug screening and identifies a SIR-2.1-independent action of resveratrol. |pubmed-url=https://pubmed.ncbi.nlm.nih.gov/24947438 |abstract=Adult onset neuronal lipofuscinosis (ANCL) is a human neurodegenerative disorder characterized by progressive neuronal dysfunction and premature death. Recently, the mutations that cause ANCL were mapped to the [[DNAJC5]] gene, which encodes cysteine string protein alpha. We show here that mutating dnj-14, the Caenorhabditis elegans orthologue of [[DNAJC5]], results in shortened lifespan and a small impairment of locomotion and neurotransmission. Mutant dnj-14 worms also exhibited age-dependent neurodegeneration of sensory neurons, which was preceded by severe progressive chemosensory defects. A focussed chemical screen revealed that resveratrol could ameliorate dnj-14 mutant phenotypes, an effect mimicked by the cAMP phosphodiesterase inhibitor, rolipram. In contrast to other worm neurodegeneration models, activation of the Sirtuin, SIR-2.1, was not required, as sir-2.1; dnj-14 double mutants showed full lifespan rescue by resveratrol. The Sirtuin-independent neuroprotective action of resveratrol revealed here suggests potential therapeutic applications for ANCL and possibly other human neurodegenerative diseases. |mesh-terms=* Adult * Animals * Caenorhabditis elegans * Caenorhabditis elegans Proteins * Disease Models, Animal * Drug Evaluation, Preclinical * HSP40 Heat-Shock Proteins * Humans * Life Expectancy * Membrane Proteins * Neuronal Ceroid-Lipofuscinoses * Resveratrol * Sirtuins * Stilbenes |full-text-url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4204773 }}
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