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In mammals, this family consists of four members (JPH1-JPH4) that are differentially expressed throughout excitable cells. The analysis of knockout mice lacking JPH subtypes has demonstrated their essential contribution to physiological functions in skeletal and cardiac muscles and in neurons. Moreover, mutations in the human JPH2 gene are associated with hypertrophic and dilated cardiomyopathies; mutations in JPH3 are responsible for the neurodegenerative Huntington's disease-like-2 (HDL2), whereas JPH1 acts as a genetic modifier in Charcot\u2013Marie\u2013Tooth 2K peripheral neuropathy. Drosophila melanogaster has a single junctophilin (jp) gene, as is the case in all invertebrates, which might retain equivalent functions of the four homologous JPH genes present in mammalian genomes. Therefore, owing to the lack of putatively redundant genes, a jp\u2008Drosophila model could provide an excellent platform to model the Junctophilin-related diseases, to discover the ancestral functions of the JPH proteins and to reveal new pathways. By up- and downregulation of Jp in a tissue-specific manner in Drosophila, we show that altering its levels of expression produces a phenotypic spectrum characterized by muscular deficits, dilated cardiomyopathy and neuronal alterations. Importantly, our study has demonstrated that Jp modifies the neuronal degeneration in a Drosophila model of Huntington's disease, and it has allowed us to uncover an unsuspected functional relationship with the Notch pathway. Therefore, this Drosophila model has revealed new aspects of Junctophilin function that can be relevant for the disease mechanisms of their human counterparts.<\/jats:p>","DOI":"10.1242\/dmm.029082","type":"journal-article","created":{"date-parts":[[2017,11,21]],"date-time":"2017-11-21T15:58:18Z","timestamp":1511279898000},"source":"Crossref","is-referenced-by-count":18,"title":["The <i>Drosophila junctophilin<\/i> gene is functionally equivalent to its four mammalian counterparts and is a modifier of a Huntingtin poly-Q expansion and the Notch pathway"],"prefix":"10.1242","volume":"11","author":[{"given":"Eduardo","family":"Calpena","sequence":"first","affiliation":[{"name":"Centro de Investigaci\u00f3n Pr\u00edncipe Felipe (CIPF) 1 Program in Molecular Mechanisms of Disease , , c\/ Eduardo Primo Y\u00fafera no. 3, 46012 Valencia , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V\u00edctor","family":"L\u00f3pez del Amo","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n Pr\u00edncipe Felipe (CIPF) 1 Program in Molecular Mechanisms of Disease , , c\/ Eduardo Primo Y\u00fafera no. 3, 46012 Valencia , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mouli","family":"Chakraborty","sequence":"additional","affiliation":[{"name":"Incliva Health Research Institute 2 Translational Genomics Group , , Avda. Menendez Pelayo 4 acc 46010, Valencia , Spain"},{"name":"Universitat de Val\u00e8ncia 3 Department of Genetics and Estructura de Recerca Interdisciplinar en Biotecnologia i Biomedicina (ERI BIOTECMED) , , c\/ Dr Moliner 50, 46100 Burjasot , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2694-1293","authenticated-orcid":false,"given":"Beatriz","family":"Llamus\u00ed","sequence":"additional","affiliation":[{"name":"Incliva Health Research Institute 2 Translational Genomics Group , , Avda. Menendez Pelayo 4 acc 46010, Valencia , Spain"},{"name":"Universitat de Val\u00e8ncia 3 Department of Genetics and Estructura de Recerca Interdisciplinar en Biotecnologia i Biomedicina (ERI BIOTECMED) , , c\/ Dr Moliner 50, 46100 Burjasot , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1596-047X","authenticated-orcid":false,"given":"Rub\u00e9n","family":"Artero","sequence":"additional","affiliation":[{"name":"Incliva Health Research Institute 2 Translational Genomics Group , , Avda. Menendez Pelayo 4 acc 46010, Valencia , Spain"},{"name":"Universitat de Val\u00e8ncia 3 Department of Genetics and Estructura de Recerca Interdisciplinar en Biotecnologia i Biomedicina (ERI BIOTECMED) , , c\/ Dr Moliner 50, 46100 Burjasot , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4435-1809","authenticated-orcid":false,"given":"Carmen","family":"Espin\u00f3s","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n Pr\u00edncipe Felipe (CIPF) 1 Program in Molecular Mechanisms of Disease , , c\/ Eduardo Primo Y\u00fafera no. 3, 46012 Valencia , Spain"},{"name":"UPV-CIPF Joint Unit Disease Mechanisms and Nanomedicine, 46012 Valencia, Spain 4"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8448-9760","authenticated-orcid":false,"given":"M\u00e1ximo I.","family":"Galindo","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n Pr\u00edncipe Felipe (CIPF) 1 Program in Molecular Mechanisms of Disease , , c\/ Eduardo Primo Y\u00fafera no. 3, 46012 Valencia , Spain"},{"name":"UPV-CIPF Joint Unit Disease Mechanisms and Nanomedicine, 46012 Valencia, Spain 4"},{"name":"Instituto Interuniversitario de Investigaci\u00f3n de Reconocimiento Molecular y Desarrollo Tecnol\u00f3gico (IDM), Universitat Polit\u00e8cnica de Val\u00e8ncia, Universitat de Val\u00e8ncia 5 , 46022 Valencia , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"237","published-online":{"date-parts":[[2018,1,17]]},"reference":[{"key":"2024061302073185300_DMM029082C1","doi-asserted-by":"crossref","first-page":"3397","DOI":"10.1242\/jcs.108.11.3397","article-title":"Phalloidin unzips nebulin from thin filaments in skeletal myofibrils","volume":"108","author":"Ao","year":"1995","journal-title":"J. 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