https://transhumanist.ru/index.php?action=history&feed=atom&title=DNAJC5DNAJC5 - История изменений2026-08-08T11:09:46ZИстория изменений этой страницы в викиMediaWiki 1.43.6https://transhumanist.ru/index.php?title=DNAJC5&diff=6398&oldid=prevOdysseusBot: Новая страница: «DnaJ homolog subfamily C member 5 (Ceroid-lipofuscinosis neuronal protein 4) (Cysteine string protein) (CSP) [CLN4] ==Publications== {{medline-entry |title=Gene...»2021-05-12T15:28:20Z<p>Новая страница: «DnaJ homolog subfamily C member 5 (Ceroid-lipofuscinosis neuronal protein 4) (Cysteine string protein) (CSP) [CLN4] ==Publications== {{medline-entry |title=Gene...»</p>
<p><b>Новая страница</b></p><div>DnaJ homolog subfamily C member 5 (Ceroid-lipofuscinosis neuronal protein 4) (Cysteine string protein) (CSP) [CLN4]<br />
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==Publications==<br />
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{{medline-entry<br />
|title=Gene Therapy of Adult Neuronal Ceroid Lipofuscinoses with CRISPR/Cas9 in Zebrafish.<br />
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/28478735<br />
|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.<br />
|mesh-terms=* Aging<br />
* Animals<br />
* Animals, Genetically Modified<br />
* Base Sequence<br />
* CRISPR-Cas Systems<br />
* Disease Models, Animal<br />
* Female<br />
* Genetic Therapy<br />
* HSP40 Heat-Shock Proteins<br />
* Humans<br />
* Male<br />
* Membrane Proteins<br />
* Neuronal Ceroid-Lipofuscinoses<br />
* Neurons<br />
* RNA, Messenger<br />
* Transcription Activator-Like Effector Nucleases<br />
* Zebrafish<br />
* Zebrafish Proteins<br />
|keywords=* ANCL<br />
* CRISPR/Cas9<br />
* gene therapy<br />
|full-text-url=https://sci-hub.do/10.1089/hum.2016.190<br />
}}<br />
{{medline-entry<br />
|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.<br />
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/24947438<br />
|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. <br />
|mesh-terms=* Adult<br />
* Animals<br />
* Caenorhabditis elegans<br />
* Caenorhabditis elegans Proteins<br />
* Disease Models, Animal<br />
* Drug Evaluation, Preclinical<br />
* HSP40 Heat-Shock Proteins<br />
* Humans<br />
* Life Expectancy<br />
* Membrane Proteins<br />
* Neuronal Ceroid-Lipofuscinoses<br />
* Resveratrol<br />
* Sirtuins<br />
* Stilbenes<br />
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|full-text-url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4204773<br />
}}</div>OdysseusBot