| 1 | NIPA1
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| Pathogenesis of Autosomal Dominant Hereditary Spastic Paraplegia (SPG6) Revealed by a Rat Model.
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| Watanabe F, Arnold WD, Hammer RE, Ghodsizadeh O, Moti H, Schumer M, Hashmi A, Hernandez A, Sneh A, Sahenk Z, Kisanuki YY.
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| J Neuropathol Exp Neurol. 2013
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| 2 | CNOT6, CYFIP1, EDIL3, FDFT1, GATA4, GJA5, HAND2, NEIL2, NIPA1, NIPA2, TUBGCP5
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| Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease.
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| Soemedi R, Wilson IJ, Bentham J, Darlay R, Töpf A, Zelenika D, Cosgrove C, Setchfield K, Thornborough C, Granados-Riveron J, Blue GM, Breckpot J, Hellens S, Zwolinkski S, Glen E, Mamasoula C, Rahman TJ, Hall D, Rauch A, Devriendt K, Gewillig M, O' Sullivan J, Winlaw DS, Bu'lock F, Brook JD, Bhattacharya S, Lathrop M, Santibanez-Koref M, Cordell HJ, Goodship JA, Keavney BD.
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| Am J Hum Genet 91(3):489-501. Epub 2012 Aug 30.
2012
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| 3 | BMPR2, NIPA1
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| NIPA1 polyalanine repeat expansions are associated with amyotrophic lateral sclerosis.
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| Blauw HM, van Rheenen W, Koppers M, Van Damme P, Waibel S, Lemmens R, van Vught PW, Meyer T, Schulte C, Gasser T, Cuppen E, Pasterkamp RJ, Robberecht W, Ludolph AC, Veldink JH, van den Berg LH.
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| Hum Mol Genet 21(11):2497-502. doi: 10.1093/hmg/dds064. Epub 2012 Feb 28.
2012
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| 4 | CYFIP1, DEL15Q11, NIPA1, NIPA2, TUBGCP5
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| 15q11.2 microdeletion - Seven new patients with delayed development and/or behavioural problems.
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| von der Lippe C, Rustad C, Heimdal K, Rødningen OK.
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| Eur J Med Genet 54(3):357-60. Epub 2010 Dec 25.
2011
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| 5 | NIPA1, SPART, SPAST, SPG21, ZFYVE26
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| The hereditary spastic paraplegia proteins NIPA1, spastin and spartin are inhibitors of mammalian BMP signalling.
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| Tsang HT, Edwards TL, Wang X, Connell JW, Davies RJ, Durrington HJ, O'Kane CJ, Luzio JP, Reid E.
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| Hum Mol Genet 18(20):3805-21. Epub 2009 Jul 20.PMID: 19620182 2009
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| 6 | NIPA1
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| Targeted disruption of the mouse Npal3 gene leads to deficits in behavior, increased IgE levels, and impaired lung function.
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| Grzmil P, Konietzko J, Boehm D, Hölter SM, Aguilar-Pimentel A, Javaheri A, Kalaydjiev S, Adler T, Bolle I, Adham I, Dixkens C, Wolf S, Fuchs H, Gailus-Durner V, Wurst W, Ollert M, Busch DH, Schulz H, de Angelis MH, Burfeind P.
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| Cytogenet Genome Res 125(3):186-200. Epub 2009 Sep 4. Erratum in: Cytogenet Genome Res. 2009;125(4):285. Hoelter, S M [corrected to Hölter, S M]; Agu 2009
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| 7 | CYFiP1, DEL15Q11, NIPA1, NIPA2, PWS, TUBGCP5
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| Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural disturbances.
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| Doornbos M, Sikkema-Raddatz B, Ruijvenkamp CA, Dijkhuizen T, Bijlsma EK, Gijsbers AC, Hilhorst-Hofstee Y, Hordijk R, Verbruggen KT, Kerstjens-Frederikse WS, van Essen T, Kok K, van Silfhout AT, Breuning M, van Ravenswaaij-Arts CM.
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| Eur J Med Genet 52(2-3):108-15. Epub 2009 Mar 27. 2009
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| 8 | NIPA1
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| Hereditary spastic paraplegia-associated mutations in the NIPA1 gene and its Caenorhabditis elegans homolog trigger neural degeneration in vitro and in vivo through a gain-of-function mechanism.
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| Zhao J, Matthies DS, Botzolakis EJ, Macdonald RL, Blakely RD, Hedera P.
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| J Neurosci 28(51):13938-51.PMID: 19091982 2008
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| 9 | NIPA1, SPG6
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| Screening of hereditary spastic paraplegia patients for alterations at NIPA1 mutational hotspots.
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| Beetz C, Schüle R, Klebe S, Klimpe S, Klopstock T, Lacour A, Otto S, Sperfeld AD, van de Warrenburg B, Schöls L, Deufel T.
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| J Neurol Sci 268(1-2):131-5. Epub 2008 Jan 14.PMID: 18191948 2008
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| 10 | NIPA1, SPG6
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| NIPA1(SPG6), the Basis for Autosomal Dominant Form of Hereditary Spastic Paraplegia, Encodes a Functional Mg2+ Transporter.
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| Goytain A, Hines RM, El-Husseini A, Quamme GA.
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| J Biol Chem 282(11):8060-8. Epub 2006 Dec 13. 2007
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| 11 | NIPA1, SPG6
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| NIPA1 (SPG6) mutations are a rare cause of autosomal dominant spastic paraplegia in Europe.
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| Klebe S, Lacour A, Durr A, Stojkovic T, Depienne C, Forlani S, Poea-Guyon S, Vuillaume I, Sablonniere B, Vermersch P, Brice A, Stevanin G.
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| Neurogenetics 8(2):155-7. Epub 2007 Jan 5. No abstract available. PMID: 17205300 2007
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| 12 | NIPA1
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| NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6).
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| Rainier S, Chai JH, Tokarz D, Nicholls RD, Fink JK.
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| Am J Hum Genet 73(4):967-71. Epub 2003 Sep 23. 2003
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| 13 | AS, BUD5SL, CYFIP1, NIPA1, NIPA2, PWS, TUBGCP5
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| Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking duplicons.
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| Chai JH, Locke DP, Greally JM, Knoll JH, Ohta T, Dunai J, Yavor A, Eichler EE, Nicholls RD.
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| Am J Hum Genet 73(4):898-925. Epub 2003 Sep 23. 2003
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| 14 | NIPA1
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| Hereditary spastic paraplegia linked to chromosome 15q : analysis of candidate genes.
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| Fink JK, et al.
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| Neurology 46 : 835-836. 1996
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| 15 | NIPA1
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| Autosomal dominant familial spastic paraplegia : tight linkage to chromosome 15q.
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| Fink JK, et al.
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| Am J Hum Genet 56 : 188-192. 1995
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