{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T18:07:49Z","timestamp":1791223669321,"version":"4.1.0"},"reference-count":33,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2013,1,30]],"date-time":"2013-01-30T00:00:00Z","timestamp":1359504000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Neuroscience Research"],"published-print":{"date-parts":[[2013,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Loss\u2010of\u2010function mutations and deletions in the neurofibromin tumor suppressor gene (<jats:italic>NF1<\/jats:italic>) cause neurofibromatosis type 1 (NF\u20101), the most common inherited syndrome of the nervous system in humans, with a birth incidence of 1:3,000. The most visible features of NF\u20101 are the neoplastic manifestations caused by the loss of Ras\u2010GTPase\u2010activating protein (Ras\u2010GAP) activity mediated through the GAP\u2010related domain (GRD) of neurofibromin (NF1), the protein encoded by <jats:italic>NF1<\/jats:italic>. However, the syndrome is also characterized by cognitive dysfunction and a number of developmental abnormalities. The molecular etiology of many of these nonneoplastic phenotypes remains unknown. Here we show that the tubulin\u2010binding domain (TBD) of NF1 is a binding partner of the leucine\u2010rich pentatricopeptide repeat motif\u2010containing (LRPPRC) protein. These two proteins complex with Kinesin 5B, hnRNP A2, Staufen1, and Myelin Basic Protein (MBP) mRNA, likely in RNA granules. This interaction is of interest in that it links NF\u20101 with Leigh's syndrome, French Canadian variant (LSFC), an autosomal recessive neurodegenerative disorder that arises from mutations in the <jats:italic>LRPPRC<\/jats:italic> gene. Our findings provide clues to how loss or mutation of NF1 and LRPPRC may contribute to the manifestations of NF\u20101 and LSFC. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/jnr.23189","type":"journal-article","created":{"date-parts":[[2013,1,30]],"date-time":"2013-01-30T06:57:24Z","timestamp":1359529044000},"page":"494-505","source":"Crossref","is-referenced-by-count":19,"title":["A novel neurofibromin (NF1) interaction with the leucine\u2010rich pentatricopeptide repeat motif\u2010containing protein links neurofibromatosis type 1 and the french canadian variant of leigh's syndrome in a common molecular complex"],"prefix":"10.1002","volume":"91","author":[{"given":"Vedant","family":"Arun","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph 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