{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,23]],"date-time":"2026-01-23T05:48:08Z","timestamp":1769147288985,"version":"3.49.0"},"reference-count":26,"publisher":"Wiley","license":[{"start":{"date-parts":[[2016,1,1]],"date-time":"2016-01-01T00:00:00Z","timestamp":1451606400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100006319","name":"Centre National pour la Recherche Scientifique et Technique","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100006319","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100006574","name":"Minist\u00e8re de l\u2019Enseignement Sup\u00e9rieur, de la Recherche Scientifique et de la Formation des Cadres","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100006574","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100013010","name":"Mohammed V University in Rabat","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100013010","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["BioMed Research International"],"published-print":{"date-parts":[[2016]]},"abstract":"<jats:p>Parkinson\u2019s disease (PD) is the second most common neurodegenerative disorder after Alzheimer\u2019s disease. Ten of fifteen causative genes linked to familial forms of PD have been reported to cause autosomal recessive forms. Among them, mutations in the PTEN-induced kinase 1 (<jats:italic>PINK1<\/jats:italic>) gene were shown to be responsible for a phenotype characterized by early onset, good response to levodopa, and a benign course. Using chromosomal microarray analysis and Sanger sequencing, we identified a homozygous G\/C substitution in a 58-year-old Moroccan man diagnosed with recessive inherited Parkinson\u2019s disease. This G-to-C transition occurred at position 1617 leading to an amino acid change L\/F at position 539 located in highly conserved motif in the C terminal sequence of<jats:italic>PINK1<\/jats:italic>. Interestingly, the c.1617G&gt;C substitution is absent in 192 ethnically matched control chromosomes. Our findings have shown that the p.L539F is a novel mutation located in the C terminal sequence of the PINK1 protein that could be pathogenic and responsible for a clinical phenotype resembling idiopathic Parkinson\u2019s disease with rapid progression and early cognitive impairment.<\/jats:p>","DOI":"10.1155\/2016\/3460234","type":"journal-article","created":{"date-parts":[[2016,6,20]],"date-time":"2016-06-20T21:01:53Z","timestamp":1466456513000},"page":"1-5","source":"Crossref","is-referenced-by-count":11,"title":["A Novel Homozygous p.L539F Mutation Identified in<i>PINK1<\/i>Gene in a Moroccan Patient with Parkinsonism"],"prefix":"10.1155","volume":"2016","author":[{"given":"Rafiqua","family":"Ben El Haj","sequence":"first","affiliation":[{"name":"Research Team on Neurodegenerative Diseases, Medical School and Pharmacy, Mohammed V University, 10100 Rabat, 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