Редактирование: DNAJC5 (раздел)

==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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