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Volumn 10, Issue 1, 2015, Pages

The RAB39B p.G192R mutation causes X-linked dominant Parkinson's disease

(26)  Mata, Ignacio F a,b   Jang, Yongwoo c   Kim, Chun Hyung c   Hanna, David S b,d   Dorschner, Michael O b,d   Samii, Ali a,b   Agarwal, Pinky e   Roberts, John W f   Klepitskaya, Olga g   Shprecher, David R h   Chung, Kathryn A i,j   Factor, Stewart A k   Espay, Alberto J l   Revilla, Fredy J m   Higgins, Donald S n   Litvan, Irene o   Leverenz, James B p   Yearout, Dora a,b   Inca Martinez, Miguel q   Martinez, Erica a,b   more..


Author keywords

[No Author keywords available]

Indexed keywords

LEVODOPA; MUTANT PROTEIN; RAB PROTEIN; RAB39B PROTEIN; UNCLASSIFIED DRUG; RAB39B PROTEIN, HUMAN;

EID: 84958520687     PISSN: None     EISSN: 17501326     Source Type: Journal    
DOI: 10.1186/s13024-015-0045-4     Document Type: Article
Times cited : (83)

References (23)
  • 1
    • 84881376726 scopus 로고    scopus 로고
    • Advances in the genetics of Parkinson disease
    • 1:CAS:528:DC%2BC3sXhtFCisLjK 23857047
    • Trinh J, Farrer M. Advances in the genetics of Parkinson disease. Nat Rev Neurol. 2013;9(8):445-54.
    • (2013) Nat Rev Neurol , vol.9 , Issue.8 , pp. 445-454
    • Trinh, J.1    Farrer, M.2
  • 2
    • 80053030497 scopus 로고    scopus 로고
    • Exome sequencing: A transformative technology
    • 1:CAS:528:DC%2BC3MXht1ant73P 21939903 3302356
    • Singleton AB. Exome sequencing: a transformative technology. Lancet Neurol. 2011;10(10):942-6.
    • (2011) Lancet Neurol , vol.10 , Issue.10 , pp. 942-946
    • Singleton, A.B.1
  • 3
    • 80051534540 scopus 로고    scopus 로고
    • A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease
    • 1:CAS:528:DC%2BC3MXovF2mt7k%3D 21763483 3135812
    • Zimprich A, Benet-Pages A, Struhal W, Graf E, Eck SH, Offman MN, et al. A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease. Am J Hum Genet. 2011;89(1):168-75.
    • (2011) Am J Hum Genet , vol.89 , Issue.1 , pp. 168-175
    • Zimprich, A.1    Benet-Pages, A.2    Struhal, W.3    Graf, E.4    Eck, S.H.5    Offman, M.N.6
  • 5
    • 0023898945 scopus 로고
    • The relevance of the Lewy body to the pathogenesis of idiopathic Parkinson's disease
    • 1:STN:280:DyaL1czgtVSqsg%3D%3D 2841426 1033142
    • Gibb WR, Lees AJ. The relevance of the Lewy body to the pathogenesis of idiopathic Parkinson's disease. J Neurol Neurosurg Psychiatry. 1988;51(6):745-52.
    • (1988) J Neurol Neurosurg Psychiatry , vol.51 , Issue.6 , pp. 745-752
    • Gibb, W.R.1    Lees, A.J.2
  • 6
    • 84897985012 scopus 로고    scopus 로고
    • Exome sequencing implicates an increased burden of rare potassium channel variants in the risk of drug-induced long QT interval syndrome
    • 1:CAS:528:DC%2BC2cXmtFSqtL8%3D 24561134 4018823
    • Weeke P, Mosley JD, Hanna D, Delaney JT, Shaffer C, Wells QS, et al. Exome sequencing implicates an increased burden of rare potassium channel variants in the risk of drug-induced long QT interval syndrome. J Am Coll Cardiol. 2014;63(14):1430-7.
    • (2014) J Am Coll Cardiol , vol.63 , Issue.14 , pp. 1430-1437
    • Weeke, P.1    Mosley, J.D.2    Hanna, D.3    Delaney, J.T.4    Shaffer, C.5    Wells, Q.S.6
  • 7
    • 84863556835 scopus 로고    scopus 로고
    • Evolution and functional impact of rare coding variation from deep sequencing of human exomes
    • 1:CAS:528:DC%2BC38XpsFKksrY%3D 22604720 3708544
    • Tennessen JA, Bigham AW, O'Connor TD, Fu W, Kenny EE, Gravel S, et al. Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science. 2012;337(6090):64-9.
    • (2012) Science , vol.337 , Issue.6090 , pp. 64-69
    • Tennessen, J.A.1    Bigham, A.W.2    O'Connor, T.D.3    Fu, W.4    Kenny, E.E.5    Gravel, S.6
  • 8
    • 84899998871 scopus 로고    scopus 로고
    • Effective filtering strategies to improve data quality from population-based whole exome sequencing studies
    • 24884706 4098776
    • Carson AR, Smith EN, Matsui H, Braekkan SK, Jepsen K, Hansen JB, et al. Effective filtering strategies to improve data quality from population-based whole exome sequencing studies. BMC Bioinformatics. 2014;15:125.
    • (2014) BMC Bioinformatics , vol.15 , pp. 125
    • Carson, A.R.1    Smith, E.N.2    Matsui, H.3    Braekkan, S.K.4    Jepsen, K.5    Hansen, J.B.6
  • 9
    • 84895858942 scopus 로고    scopus 로고
    • A general framework for estimating the relative pathogenicity of human genetic variants
    • 1:CAS:528:DC%2BC2cXhs1Sjt7g%3D 24487276 3992975
    • Kircher M, Witten DM, Jain P, O'Roak BJ, Cooper GM, Shendure J. A general framework for estimating the relative pathogenicity of human genetic variants. Nat Genet. 2014;46(3):310-5.
    • (2014) Nat Genet , vol.46 , Issue.3 , pp. 310-315
    • Kircher, M.1    Witten, D.M.2    Jain, P.3    O'Roak, B.J.4    Cooper, G.M.5    Shendure, J.6
  • 10
    • 83055184071 scopus 로고    scopus 로고
    • Modulating ectopic gene expression levels by using retroviral vectors equipped with synthetic promoters
    • 23205156 3234317
    • Ferreira JP, Peacock RW, Lawhorn IE, Wang CL. Modulating ectopic gene expression levels by using retroviral vectors equipped with synthetic promoters. Syst Synth Biol. 2011;5(3-4):131-8.
    • (2011) Syst Synth Biol , vol.5 , Issue.3-4 , pp. 131-138
    • Ferreira, J.P.1    Peacock, R.W.2    Lawhorn, I.E.3    Wang, C.L.4
  • 11
    • 76249116225 scopus 로고    scopus 로고
    • Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly
    • 1:CAS:528:DC%2BC3cXlt1Kmurc%3D 20159109 2820185
    • Giannandrea M, Bianchi V, Mignogna ML, Sirri A, Carrabino S, D'Elia E, et al. Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly. Am J Hum Genet. 2010;86(2):185-95.
    • (2010) Am J Hum Genet , vol.86 , Issue.2 , pp. 185-195
    • Giannandrea, M.1    Bianchi, V.2    Mignogna, M.L.3    Sirri, A.4    Carrabino, S.5    D'Elia, E.6
  • 12
    • 84893951968 scopus 로고    scopus 로고
    • Increased dosage of RAB39B affects neuronal development and could explain the cognitive impairment in male patients with distal Xq28 copy number gains
    • 1:CAS:528:DC%2BC2cXislems7s%3D 24357492
    • Vanmarsenille L, Giannandrea M, Fieremans N, Verbeeck J, Belet S, Raynaud M, et al. Increased dosage of RAB39B affects neuronal development and could explain the cognitive impairment in male patients with distal Xq28 copy number gains. Hum Mutat. 2014;35(3):377-83.
    • (2014) Hum Mutat , vol.35 , Issue.3 , pp. 377-383
    • Vanmarsenille, L.1    Giannandrea, M.2    Fieremans, N.3    Verbeeck, J.4    Belet, S.5    Raynaud, M.6
  • 13
    • 84919650942 scopus 로고    scopus 로고
    • Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with alpha-synuclein pathology
    • 1:CAS:528:DC%2BC2cXhvF2mtL3P 25434005 4259921
    • Wilson GR, Sim JC, McLean C, Giannandrea M, Galea CA, Riseley JR, et al. Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with alpha-synuclein pathology. Am J Hum Genet. 2014;95(6):729-35.
    • (2014) Am J Hum Genet , vol.95 , Issue.6 , pp. 729-735
    • Wilson, G.R.1    Sim, J.C.2    McLean, C.3    Giannandrea, M.4    Galea, C.A.5    Riseley, J.R.6
  • 14
    • 78751656754 scopus 로고    scopus 로고
    • Role of Rab GTPases in membrane traffic and cell physiology
    • 1:CAS:528:DC%2BC3MXisVCht74%3D 21248164 3710122
    • Hutagalung AH, Novick PJ. Role of Rab GTPases in membrane traffic and cell physiology. Physiol Rev. 2011;91(1):119-49.
    • (2011) Physiol Rev , vol.91 , Issue.1 , pp. 119-149
    • Hutagalung, A.H.1    Novick, P.J.2
  • 16
    • 18144380651 scopus 로고    scopus 로고
    • Structural clues to Rab GTPase functional diversity
    • 1:CAS:528:DC%2BD2MXjtlejurw%3D 15746102
    • Pfeffer SR. Structural clues to Rab GTPase functional diversity. J Biol Chem. 2005;280(16):15485-8.
    • (2005) J Biol Chem , vol.280 , Issue.16 , pp. 15485-15488
    • Pfeffer, S.R.1
  • 17
    • 0035166819 scopus 로고    scopus 로고
    • Mutant rab8 Impairs docking and fusion of rhodopsin-bearing post-Golgi membranes and causes cell death of transgenic Xenopus rods
    • 1:CAS:528:DC%2BD3MXmtFKgtbk%3D 11514620 58598
    • Moritz OL, Tam BM, Hurd LL, Peranen J, Deretic D, Papermaster DS. Mutant rab8 Impairs docking and fusion of rhodopsin-bearing post-Golgi membranes and causes cell death of transgenic Xenopus rods. Mol Biol Cell. 2001;12(8):2341-51.
    • (2001) Mol Biol Cell , vol.12 , Issue.8 , pp. 2341-2351
    • Moritz, O.L.1    Tam, B.M.2    Hurd, L.L.3    Peranen, J.4    Deretic, D.5    Papermaster, D.S.6
  • 18
    • 84925059164 scopus 로고    scopus 로고
    • The intellectual disability protein RAB39B selectively regulates GluA2 trafficking to determine synaptic AMPAR composition
    • 1:CAS:528:DC%2BC2MXosFemsbc%3D 25784538 4383008
    • Mignogna ML, Giannandrea M, Gurgone A, Fanelli F, Raimondi F, Mapelli L, et al. The intellectual disability protein RAB39B selectively regulates GluA2 trafficking to determine synaptic AMPAR composition. Nat Commun. 2015;6:6504.
    • (2015) Nat Commun , vol.6 , pp. 6504
    • Mignogna, M.L.1    Giannandrea, M.2    Gurgone, A.3    Fanelli, F.4    Raimondi, F.5    Mapelli, L.6
  • 19
    • 84862506964 scopus 로고    scopus 로고
    • A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3
    • Austin 1:CAS:528:DC%2BC38Xht1GmtL3E
    • Cingolani P, Platts A, le Wang L, Coon M, Nguyen T, Wang L, et al. A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3. Fly (Austin). 2012;6(2):80-92.
    • (2012) Fly , vol.6 , Issue.2 , pp. 80-92
    • Cingolani, P.1    Platts, A.2    Le Wang, L.3    Coon, M.4    Nguyen, T.5    Wang, L.6
  • 20
    • 84871226620 scopus 로고    scopus 로고
    • GBA mutations increase risk for Lewy body disease with and without Alzheimer disease pathology
    • 1:CAS:528:DC%2BC38Xhs1ahu7rO 23035075 3484986
    • Tsuang D, Leverenz JB, Lopez OL, Hamilton RL, Bennett DA, Schneider JA, et al. GBA mutations increase risk for Lewy body disease with and without Alzheimer disease pathology. Neurology. 2012;79(19):1944-50.
    • (2012) Neurology , vol.79 , Issue.19 , pp. 1944-1950
    • Tsuang, D.1    Leverenz, J.B.2    Lopez, O.L.3    Hamilton, R.L.4    Bennett, D.A.5    Schneider, J.A.6
  • 21
    • 79953219050 scopus 로고    scopus 로고
    • Norepinephrine deficiency is caused by combined abnormal mRNA processing and defective protein trafficking of dopamine beta-hydroxylase
    • 1:CAS:528:DC%2BC3MXjtFOisL0%3D 21209083 3059068
    • Kim CH, Leung A, Huh YH, Yang E, Kim DJ, Leblanc P, et al. Norepinephrine deficiency is caused by combined abnormal mRNA processing and defective protein trafficking of dopamine beta-hydroxylase. J Biol Chem. 2011;286(11):9196-204.
    • (2011) J Biol Chem , vol.286 , Issue.11 , pp. 9196-9204
    • Kim, C.H.1    Leung, A.2    Huh, Y.H.3    Yang, E.4    Kim, D.J.5    Leblanc, P.6
  • 22
    • 84919941343 scopus 로고    scopus 로고
    • TRPM2 mediates the lysophosphatidic acid-induced neurite retraction in the developing brain
    • 1:CAS:528:DC%2BC2cXotFynug%3D%3D 24413888
    • Jang Y, Lee MH, Lee J, Jung J, Lee SH, Yang DJ, et al. TRPM2 mediates the lysophosphatidic acid-induced neurite retraction in the developing brain. Pflugers Arch. 2014;466(10):1987-98.
    • (2014) Pflugers Arch , vol.466 , Issue.10 , pp. 1987-1998
    • Jang, Y.1    Lee, M.H.2    Lee, J.3    Jung, J.4    Lee, S.H.5    Yang, D.J.6
  • 23
    • 63849246525 scopus 로고    scopus 로고
    • Protein structure prediction on the Web: A case study using the Phyre server
    • 1:CAS:528:DC%2BD1MXivF2itbs%3D 19247286
    • Kelley LA, Sternberg MJ. Protein structure prediction on the Web: a case study using the Phyre server. Nat Protoc. 2009;4(3):363-71.
    • (2009) Nat Protoc , vol.4 , Issue.3 , pp. 363-371
    • Kelley, L.A.1    Sternberg, M.J.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.