Citations for
1BICD2, SMALED2
BICD2 mutational analysis in hereditary spastic paraplegia and hereditary motor and sensory neuropathy.
Kropatsch R, Schmidt HM, Buttkereit P, Epplen JT, Hoffjan S.
Muscle Nerve uscle Nerve. 2018 Dec 7. doi: 10.1002/mus.26394. [Epub ahead of print] 2018
2BICD2, SMALED2
Novel insights into SMALED2: BICD2 mutations increase microtubule stability and cause defects in axonal and NMJ development.
Martinez Carrera LA, Gabriel E, Donohoe CD, Hölker I, Mariappan A, Storbeck M, Uhlirova M, Gopalakrishnan J, Wirth B.
Hum Mol Genet 27(10):1772-1784. doi: 10.1093/hmg/ddy086. 2018
3BICD2, SMALED2
Distal myopathy due to BICD2 mutations.
Souza PVS, Pinto WBVR, Aivazoglou LU, Cardoso FN, Aihara AY, Yamada AF, Naylor FGM, Fernandes ARC, Oliveira ASB.
Clin Neurol Neurosurg 165:47-49. doi: 10.1016/j.clineuro.2017.12.023. Epub 2017 Dec 29. No abstract available. 2018
4BICD2
Bicaudal D2 facilitates the cytoplasmic trafficking and nuclear import of HIV-1 genomes during infection.
Dharan A, Opp S, Abdel-Rahim O, Keceli SK, Imam S, Diaz-Griffero F, Campbell EM.
Proc Natl Acad Sci U S A 114(50):E10707-E10716. doi: 10.1073/pnas.1712033114. Epub 2017 Nov 27. 2017
5BICD2, SMALED2
Disease-associated mutations in human BICD2 hyperactivate motility of dynein-dynactin.
Huynh W, Vale RD.
J Cell Biol 216(10):3051-3060. doi: 10.1083/jcb.201703201. Epub 2017 Sep 7. 2017
6BICD2, SMALED2
Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features.
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.
Eur J Hum Genet 25(9):1040-1048. doi: 10.1038/ejhg.2017.98. Epub 2017 Jun 21. 2017
7BICD2
A role for Bicaudal-D2 in radial cerebellar granule cell migration.
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.
Nat Commun 5:3411. doi: 10.1038/ncomms4411. 2014
8BICD2, SMALED2
Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia.
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.
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
9BICD2, SMALED2
Molecular Defects in the Motor Adaptor BICD2 Cause Proximal Spinal Muscular Atrophy with Autosomal-Dominant Inheritance.
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.
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
10BICD1, BICD2, SMALED2
Mutations in BICD2, which Encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy.
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.
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
11BICD2, DCTN1, PAFAH1B1
BICD2, dynactin, and LIS1 cooperate in regulating dynein recruitment to cellular structures.
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.
Mol Biol Cell 23(21):4226-41. doi: 10.1091/mbc.E12-03-0210. Epub 2012 Sep 5. 2012
12ASUN, BICD2
Human Asunder promotes dynein recruitment and centrosomal tethering to the nucleus at mitotic entry.
Jodoin JN, Shboul M, Sitaram P, Zein-Sabatto H, Reversade B, Lee E, Lee LA.
Mol Biol Cell 23(24):4713-24. doi: 10.1091/mbc.E12-07-0558. Epub 2012 Oct 24. 2012
13BICD2, DCTN1, GOPC, RAB6A
Biophysical analysis of the interaction of Rab6a GTPase with its effector domains.
Bergbrede T, Chuky N, Schoebel S, Blankenfeldt W, Geyer M, Fuchs E, Goody RS, Barr F, Alexandrov K.
J Biol Chem 284(5):2628-35. Epub 2008 Nov 19.PMID: 19019823 2009
14BICD2
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.
Teuling E, van Dis V, Wulf PS, Haasdijk ED, Akhmanova A, Hoogenraad CC, Jaarsma D.
Hum Mol Genet 17(18):2849-62. doi: 10.1093/hmg/ddn182. Epub 2008 Jun 25. 2008
15NEK9, BICD2
Purification, cloning, and characterization of Nek8, a novel NIMA-related kinase, and its candidate substrate Bicd2.
Holland PM, Milne A, Garka K, Johnson RS, Willis C, Sims JE, Rauch CT, Bird TA, Virca GD.
J Biol Chem 277(18):16229-40. 2002
16AATK, 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
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.
Ishikawa K, Nagase T, Suyama M, Miyajima N, Tanaka A, Kotani H, Nomura N,Ohara O.
DNA Res 5(3):169-76. 1998