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Results: 1 to 20 of 123

Related Citations for PubMed (Select 12134148)

1.

SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia.

Patel H, Cross H, Proukakis C, Hershberger R, Bork P, Ciccarelli FD, Patton MA, McKusick VA, Crosby AH.

Nat Genet. 2002 Aug;31(4):347-8. Epub 2002 Jul 22.

PMID:
12134148
2.

The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia.

Ciccarelli FD, Proukakis C, Patel H, Cross H, Azam S, Patton MA, Bork P, Crosby AH.

Genomics. 2003 Apr;81(4):437-41.

PMID:
12676568
3.

The Troyer syndrome (SPG20) protein spartin interacts with Eps15.

Bakowska JC, Jenkins R, Pendleton J, Blackstone C.

Biochem Biophys Res Commun. 2005 Sep 9;334(4):1042-8.

PMID:
16036216
4.

Troyer syndrome protein spartin is mono-ubiquitinated and functions in EGF receptor trafficking.

Bakowska JC, Jupille H, Fatheddin P, Puertollano R, Blackstone C.

Mol Biol Cell. 2007 May;18(5):1683-92. Epub 2007 Mar 1.

5.

The hereditary spastic paraplegia protein spartin localises to mitochondria.

Lu J, Rashid F, Byrne PC.

J Neurochem. 2006 Sep;98(6):1908-19.

PMID:
16945107
6.

Troyer syndrome revisited. A clinical and radiological study of a complicated hereditary spastic paraplegia.

Proukakis C, Cross H, Patel H, Patton MA, Valentine A, Crosby AH.

J Neurol. 2004 Sep;251(9):1105-10.

PMID:
15372254
7.

Lack of spartin protein in Troyer syndrome: a loss-of-function disease mechanism?

Bakowska JC, Wang H, Xin B, Sumner CJ, Blackstone C.

Arch Neurol. 2008 Apr;65(4):520-4. doi: 10.1001/archneur.65.4.520.

PMID:
18413476
8.

Three novel mutations of the spastin gene in Chinese patients with hereditary spastic paraplegia.

Tang B, Zhao G, Xia K, Pan Q, Luo W, Shen L, Long Z, Dai H, Zi X, Jiang H.

Arch Neurol. 2004 Jan;61(1):49-55.

PMID:
14732620
9.

A novel mutation in the spastin gene in a family with spastic paraplegia.

Morita M, Ho M, Hosler BA, McKenna-Yasek D, Brown RH Jr.

Neurosci Lett. 2002 May 31;325(1):57-61.

PMID:
12023066
10.

[From gene to disease; spastin and hereditary spastic paraparesis].

Bruyn RP, Frants RR.

Ned Tijdschr Geneeskd. 2004 Jan 24;148(4):179-81. Review. Dutch.

PMID:
14974310
11.

A novel insertion mutation in spastin gene is the cause of spastic paraplegia in a Chinese family.

Qin W, Zhang T, Han J, Tang L, Li X, Feng G, Liu W, He L.

J Neurol Sci. 2003 Jun 15;210(1-2):35-9.

PMID:
12736085
12.

ZFYVE27 (SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegia.

Mannan AU, Krawen P, Sauter SM, Boehm J, Chronowska A, Paulus W, Neesen J, Engel W.

Am J Hum Genet. 2006 Aug;79(2):351-7. Epub 2006 Jun 1.

13.

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.

14.

A second leaky splice-site mutation in the spastin gene.

Svenson IK, Ashley-Koch AE, Pericak-Vance MA, Marchuk DA.

Am J Hum Genet. 2001 Dec;69(6):1407-9. No abstract available.

15.

Hereditary spastic paraplegia: spastin phenotype and function.

Fink JK, Rainier S.

Arch Neurol. 2004 Jun;61(6):830-3. Review. No abstract available.

PMID:
15210518
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.

17.

Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia.

Simpson MA, Cross H, Proukakis C, Pryde A, Hershberger R, Chatonnet A, Patton MA, Crosby AH.

Am J Hum Genet. 2003 Nov;73(5):1147-56. Epub 2003 Oct 16.

18.

Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis.

Lindsey JC, Lusher ME, McDermott CJ, White KD, Reid E, Rubinsztein DC, Bashir R, Hazan J, Shaw PJ, Bushby KM.

J Med Genet. 2000 Oct;37(10):759-65.

19.

A new locus for autosomal recessive complicated hereditary spastic paraplegia (SPG26) maps to chromosome 12p11.1-12q14.

Wilkinson PA, Simpson MA, Bastaki L, Patel H, Reed JA, Kalidas K, Samilchuk E, Khan R, Warner TT, Crosby AH.

J Med Genet. 2005 Jan;42(1):80-2. No abstract available.

20.

Spastin, the most commonly mutated protein in hereditary spastic paraplegia interacts with Reticulon 1 an endoplasmic reticulum protein.

Mannan AU, Boehm J, Sauter SM, Rauber A, Byrne PC, Neesen J, Engel W.

Neurogenetics. 2006 May;7(2):93-103. Epub 2006 Apr 7.

PMID:
16602018
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