1 | BICD2, SMALED2
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| BICD2 mutational analysis in hereditary spastic paraplegia and hereditary motor and sensory neuropathy.
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| Kropatsch R, Schmidt HM, Buttkereit P, Epplen JT, Hoffjan S.
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| Muscle Nerve uscle Nerve. 2018 Dec 7. doi: 10.1002/mus.26394. [Epub ahead of print]
2018
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2 | BICD2, SMALED2
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| Novel insights into SMALED2: BICD2 mutations increase microtubule stability and cause defects in axonal and NMJ development.
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| Martinez Carrera LA, Gabriel E, Donohoe CD, Hölker I, Mariappan A, Storbeck M, Uhlirova M, Gopalakrishnan J, Wirth B.
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| Hum Mol Genet 27(10):1772-1784. doi: 10.1093/hmg/ddy086.
2018
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3 | BICD2, SMALED2
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| Distal myopathy due to BICD2 mutations.
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| Souza PVS, Pinto WBVR, Aivazoglou LU, Cardoso FN, Aihara AY, Yamada AF, Naylor FGM, Fernandes ARC, Oliveira ASB.
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| Clin Neurol Neurosurg 165:47-49. doi: 10.1016/j.clineuro.2017.12.023. Epub 2017 Dec 29. No abstract available.
2018
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4 | BICD2
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| Bicaudal D2 facilitates the cytoplasmic trafficking and nuclear import of HIV-1 genomes during infection.
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| Dharan A, Opp S, Abdel-Rahim O, Keceli SK, Imam S, Diaz-Griffero F, Campbell EM.
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| Proc Natl Acad Sci U S A 114(50):E10707-E10716. doi: 10.1073/pnas.1712033114. Epub 2017 Nov 27.
2017
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5 | BICD2, SMALED2
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| Disease-associated mutations in human BICD2 hyperactivate motility of dynein-dynactin.
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| Huynh W, Vale RD.
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| J Cell Biol 216(10):3051-3060. doi: 10.1083/jcb.201703201. Epub 2017 Sep 7.
2017
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6 | BICD2, SMALED2
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| Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features.
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| Storbeck M, Horsberg Eriksen B, Unger A, Hölker I, Aukrust I, Martínez-Carrera LA, Linke WA, Ferbert A, Heller R, Vorgerd M, Houge G, Wirth B.
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| Eur J Hum Genet 25(9):1040-1048. doi: 10.1038/ejhg.2017.98. Epub 2017 Jun 21.
2017
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7 | BICD2
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| A role for Bicaudal-D2 in radial cerebellar granule cell migration.
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| Jaarsma D, van den Berg R, Wulf PS, van Erp S, Keijzer N, Schlager MA, de Graaff E, De Zeeuw CI, Pasterkamp RJ, Akhmanova A, Hoogenraad CC.
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| Nat Commun 5:3411. doi: 10.1038/ncomms4411.
2014
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8 | BICD2, SMALED2
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| Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia.
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| Oates EC, Rossor AM, Hafezparast M, Gonzalez M, Speziani F, Macarthur DG, Lek M, Cottenie E, Scoto M, Foley AR, Hurles M, Houlden H, Greensmith L, Auer-Grumbach M, Pieber TR, Strom TM, Schule R, Herrmann DN, Sowden JE, Acsadi G, Menezes MP, Clarke NF, Züchner S; UK10K, Muntoni F, North KN, Reilly MM.
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| Am J Hum Genet m J Hum Genet. 2013 May 9. doi:pii: S0002-9297(13)00179-1. 10.1016/j.ajhg.2013.04.018. [Epub ahead of print]
2013
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9 | BICD2, SMALED2
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| Molecular Defects in the Motor Adaptor BICD2 Cause Proximal Spinal Muscular Atrophy with Autosomal-Dominant Inheritance.
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| Peeters K, Litvinenko I, Asselbergh B, Almeida-Souza L, Chamova T, Geuens T, Ydens E, Zimoń M, Irobi J, De Vriendt E, De Winter V, Ooms T, Timmerman V, Tournev I, Jordanova A.
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| Am J Hum Genet m J Hum Genet. 2013 May 7. doi:pii: S0002-9297(13)00174-2. 10.1016/j.ajhg.2013.04.013. [Epub ahead of print]
2013
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10 | BICD1, BICD2, SMALED2
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| Mutations in BICD2, which Encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy.
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| Neveling K, Martinez-Carrera LA, Hölker I, Heister A, Verrips A, Hosseini-Barkooie SM, Gilissen C, Vermeer S, Pennings M, Meijer R, Te Riele M, Frijns CJ, Suchowersky O, Maclaren L, Rudnik-Schöneborn S, Sinke RJ, Zerres K, Lowry RB, Lemmink HH, Garbes L, Veltman JA, Schelhaas HJ, Scheffer H, Wirth B.
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| Am J Hum Genet m J Hum Genet. 2013 May 7. doi:pii: S0002-9297(13)00172-9. 10.1016/j.ajhg.2013.04.011. [Epub ahead of print] 2013
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11 | BICD2, DCTN1, PAFAH1B1
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| BICD2, dynactin, and LIS1 cooperate in regulating dynein recruitment to cellular structures.
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| Splinter D, Razafsky DS, Schlager MA, Serra-Marques A, Grigoriev I, Demmers J, Keijzer N, Jiang K, Poser I, Hyman AA, Hoogenraad CC, King SJ, Akhmanova A.
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| Mol Biol Cell 23(21):4226-41. doi: 10.1091/mbc.E12-03-0210. Epub 2012 Sep 5.
2012
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12 | ASUN, BICD2
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| Human Asunder promotes dynein recruitment and centrosomal tethering to the nucleus at mitotic entry.
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| Jodoin JN, Shboul M, Sitaram P, Zein-Sabatto H, Reversade B, Lee E, Lee LA.
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| Mol Biol Cell 23(24):4713-24. doi: 10.1091/mbc.E12-07-0558. Epub 2012 Oct 24.
2012
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13 | BICD2, DCTN1, GOPC, RAB6A
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| Biophysical analysis of the interaction of Rab6a GTPase with its effector domains.
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| Bergbrede T, Chuky N, Schoebel S, Blankenfeldt W, Geyer M, Fuchs E, Goody RS, Barr F, Alexandrov K.
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| J Biol Chem 284(5):2628-35. Epub 2008 Nov 19.PMID: 19019823 2009
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14 | BICD2
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| A novel mouse model with impaired dynein/dynactin function develops amyotrophic lateral sclerosis (ALS)-like features in motor neurons and improves lifespan in SOD1-ALS mice.
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| Teuling E, van Dis V, Wulf PS, Haasdijk ED, Akhmanova A, Hoogenraad CC, Jaarsma D.
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| Hum Mol Genet 17(18):2849-62. doi: 10.1093/hmg/ddn182. Epub 2008 Jun 25.
2008
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15 | NEK9, BICD2
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| Purification, cloning, and characterization of Nek8, a novel NIMA-related kinase, and its candidate substrate Bicd2.
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| Holland PM, Milne A, Garka K, Johnson RS, Willis C, Sims JE, Rauch CT, Bird TA, Virca GD.
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| J Biol Chem 277(18):16229-40. 2002
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16 | AATK, ACIN1, ACOT11, ACSBG1, ADAMTS4, ADGRV1, AKAP11, ANKLE2, ARHGAP26, ARHGEF2, ASTN2, ATP2C2, ATP9A, BICD2, BZRAP1, C12orf51, CAND2, CEP135, CLASP1, CLASP2, CLUAP1, CLUH, CNOT3, COBL, CPNE3, CRTC1, CRY2, CSTF2T, CUL3, CUL4B, DAAM1, DAGLA, DEPDC5, DNAJC13, DOCK10, DZIP3, FBXW11, FKBP15, G3BP2, HEPH, HIP1R, HIPK1, ICOSLG, KIAA0649, KIAA0652, KIF13B, KIF1C, KIF21A, L3MBTL1, LDB3, MAGI2, MAP4K4, MFAP3L, MGEA5, MRC2, MTMR4, N4BP1, NPHP4, OBSL1, PAN2, PHACTR2, PHF2, PHLDB1, PLXND1, PPFIA3, PTCD1, RAB11FIP3, RBM19, RICH2, RNF40, RNF8, ROCK2, RRP12, SAPS2, SETX, SIN3B, SLC24A1, SMCHD1, SNAP91, SOCS5, SS18L1, SWAP70, TBC1D9B, TELO2, TNRC15, TSC22D2, UBE4B, UHRF1BP1L, ULK2, ZBED4, ZC3H11A, ZNF623
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| Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.
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| Ishikawa K, Nagase T, Suyama M, Miyajima N, Tanaka A, Kotani H, Nomura N,Ohara O.
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| DNA Res 5(3):169-76. 1998
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