Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 40

1.

The role of spartin and its novel ubiquitin binding region in DALIS occurrence.

Karlsson AB, Washington J, Dimitrova V, Hooper C, Shekhtman A, Bakowska JC.

Mol Biol Cell. 2014 Apr;25(8):1355-65. doi: 10.1091/mbc.E13-11-0705. Epub 2014 Feb 12.

PMID:
24523286
[PubMed - in process]
Free PMC Article
2.

Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.

Fink JK.

Acta Neuropathol. 2013 Sep;126(3):307-28. doi: 10.1007/s00401-013-1115-8. Epub 2013 Jul 30. Review.

PMID:
23897027
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Exome and whole-genome sequencing of esophageal adenocarcinoma identifies recurrent driver events and mutational complexity.

Dulak AM, Stojanov P, Peng S, Lawrence MS, Fox C, Stewart C, Bandla S, Imamura Y, Schumacher SE, Shefler E, McKenna A, Carter SL, Cibulskis K, Sivachenko A, Saksena G, Voet D, Ramos AH, Auclair D, Thompson K, Sougnez C, Onofrio RC, Guiducci C, Beroukhim R, Zhou Z, Lin L, Lin J, Reddy R, Chang A, Landrenau R, Pennathur A, Ogino S, Luketich JD, Golub TR, Gabriel SB, Lander ES, Beer DG, Godfrey TE, Getz G, Bass AJ.

Nat Genet. 2013 May;45(5):478-86. doi: 10.1038/ng.2591. Epub 2013 Mar 24.

PMID:
23525077
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Spartin regulates synaptic growth and neuronal survival by inhibiting BMP-mediated microtubule stabilization.

Nahm M, Lee MJ, Parkinson W, Lee M, Kim H, Kim YJ, Kim S, Cho YS, Min BM, Bae YC, Broadie K, Lee S.

Neuron. 2013 Feb 20;77(4):680-95. doi: 10.1016/j.neuron.2012.12.015.

PMID:
23439121
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis.

Oz-Levi D, Ben-Zeev B, Ruzzo EK, Hitomi Y, Gelman A, Pelak K, Anikster Y, Reznik-Wolf H, Bar-Joseph I, Olender T, Alkelai A, Weiss M, Ben-Asher E, Ge D, Shianna KV, Elazar Z, Goldstein DB, Pras E, Lancet D.

Am J Hum Genet. 2012 Dec 7;91(6):1065-72. doi: 10.1016/j.ajhg.2012.09.015. Epub 2012 Nov 21.

PMID:
23176824
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Spg20-/- mice reveal multimodal functions for Troyer syndrome protein spartin in lipid droplet maintenance, cytokinesis and BMP signaling.

Renvoisé B, Stadler J, Singh R, Bakowska JC, Blackstone C.

Hum Mol Genet. 2012 Aug 15;21(16):3604-18. doi: 10.1093/hmg/dds191. Epub 2012 May 22.

PMID:
22619377
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia.

Dias C, Sincan M, Cherukuri PF, Rupps R, Huang Y, Briemberg H, Selby K, Mullikin JC, Markello TC, Adams DR, Gahl WA, Boerkoel CF.

Hum Mutat. 2012 Apr;33(4):614-26. doi: 10.1002/humu.22032. Epub 2012 Feb 28.

PMID:
22311686
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

SPG20 protein spartin associates with cardiolipin via its plant-related senescence domain and regulates mitochondrial Ca2+ homeostasis.

Joshi DC, Bakowska JC.

PLoS One. 2011 Apr 29;6(4):e19290. doi: 10.1371/journal.pone.0019290.

PMID:
21559443
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

SPG20, a novel biomarker for early detection of colorectal cancer, encodes a regulator of cytokinesis.

Lind GE, Raiborg C, Danielsen SA, Rognum TO, Thiis-Evensen E, Hoff G, Nesbakken A, Stenmark H, Lothe RA.

Oncogene. 2011 Sep 15;30(37):3967-78. doi: 10.1038/onc.2011.109. Epub 2011 Apr 18.

PMID:
21499309
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Not just fat: the structure and function of the lipid droplet.

Fujimoto T, Parton RG.

Cold Spring Harb Perspect Biol. 2011 Mar 1;3(3). pii: a004838. doi: 10.1101/cshperspect.a004838. Review.

PMID:
21421923
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Defective mitochondrial mRNA maturation is associated with spastic ataxia.

Crosby AH, Patel H, Chioza BA, Proukakis C, Gurtz K, Patton MA, Sharifi R, Harlalka G, Simpson MA, Dick K, Reed JA, Al-Memar A, Chrzanowska-Lightowlers ZM, Cross HE, Lightowlers RN.

Am J Hum Genet. 2010 Nov 12;87(5):655-60. doi: 10.1016/j.ajhg.2010.09.013. Epub 2010 Oct 21.

PMID:
20970105
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

The effect of HSP-causing mutations in SPG3A and NIPA1 on the assembly, trafficking, and interaction between atlastin-1 and NIPA1.

Botzolakis EJ, Zhao J, Gurba KN, Macdonald RL, Hedera P.

Mol Cell Neurosci. 2011 Jan;46(1):122-35. doi: 10.1016/j.mcn.2010.08.012. Epub 2010 Sep 21.

PMID:
20816793
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

SPG20 protein spartin is recruited to midbodies by ESCRT-III protein Ist1 and participates in cytokinesis.

Renvoisé B, Parker RL, Yang D, Bakowska JC, Hurley JH, Blackstone C.

Mol Biol Cell. 2010 Oct 1;21(19):3293-303. doi: 10.1091/mbc.E09-10-0879. Epub 2010 Aug 18.

PMID:
20719964
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Regulation of lipid droplet turnover by ubiquitin ligases.

Alberts P, Rotin D.

BMC Biol. 2010 Jul 19;8:94. doi: 10.1186/1741-7007-8-94.

PMID:
20646264
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Spartin activates atrophin-1-interacting protein 4 (AIP4) E3 ubiquitin ligase and promotes ubiquitination of adipophilin on lipid droplets.

Hooper C, Puttamadappa SS, Loring Z, Shekhtman A, Bakowska JC.

BMC Biol. 2010 May 26;8:72. doi: 10.1186/1741-7007-8-72.

PMID:
20504295
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Developmental and degenerative features in a complicated spastic paraplegia.

Manzini MC, Rajab A, Maynard TM, Mochida GH, Tan WH, Nasir R, Hill RS, Gleason D, Al Saffar M, Partlow JN, Barry BJ, Vernon M, LaMantia AS, Walsh CA.

Ann Neurol. 2010 Apr;67(4):516-25. doi: 10.1002/ana.21923.

PMID:
20437587
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish.

Southgate L, Dafou D, Hoyle J, Li N, Kinning E, Critchley P, Németh AH, Talbot K, Bindu PS, Sinha S, Taly AB, Raghavendra S, Müller F, Maher ER, Trembath RC.

Neurogenetics. 2010 Oct;11(4):379-89. doi: 10.1007/s10048-010-0243-8.

PMID:
20390432
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

A common substrate recognition mode conserved between katanin p60 and VPS4 governs microtubule severing and membrane skeleton reorganization.

Iwaya N, Kuwahara Y, Fujiwara Y, Goda N, Tenno T, Akiyama K, Mase S, Tochio H, Ikegami T, Shirakawa M, Hiroaki H.

J Biol Chem. 2010 May 28;285(22):16822-9. doi: 10.1074/jbc.M110.108365. Epub 2010 Mar 25.

PMID:
20339000
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19.

Meilleur KG, Traoré M, Sangaré M, Britton A, Landouré G, Coulibaly S, Niaré B, Mochel F, La Pean A, Rafferty I, Watts C, Shriner D, Littleton-Kearney MT, Blackstone C, Singleton A, Fischbeck KH.

Neurogenetics. 2010 Jul;11(3):313-8. doi: 10.1007/s10048-009-0230-0. Epub 2009 Dec 29.

PMID:
20039086
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

The hereditary spastic paraplegia proteins NIPA1, spastin and spartin are inhibitors of mammalian BMP signalling.

Tsang HT, Edwards TL, Wang X, Connell JW, Davies RJ, Durrington HJ, O'Kane CJ, Luzio JP, Reid E.

Hum Mol Genet. 2009 Oct 15;18(20):3805-21. doi: 10.1093/hmg/ddp324. Epub 2009 Jul 20.

PMID:
19620182
[PubMed - indexed for MEDLINE]
Free PMC Article

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk