Nahorski MS - Search Results

1

PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins.

Hall EA, Nahorski MS, Murray LM, Shaheen R, Perkins E, Dissanayake KN, Kristaryanto Y, Jones RA, Vogt J, Rivagorda M, Handley MT, Mali GR, Quidwai T, Soares DC, Keighren MA, McKie L, Mort RL, Gammoh N, Garcia-Munoz A, Davey T, Vermeren M, Walsh D, Budd P, Aligianis IA, Faqeih E, Quigley AJ, Jackson IJ, Kulathu Y, Jackson M, Ribchester RR, von Kriegsheim A, Alkuraya FS, Woods CG, Maher ER, Mill P. Hall EA, et al. Among authors: nahorski ms. Am J Hum Genet. 2017 May 4;100(5):706-724. doi: 10.1016/j.ajhg.2017.03.008. Epub 2017 Apr 13. Am J Hum Genet. 2017. PMID: 28413018 Free PMC article.

2

A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene.

Lim DH, Rehal PK, Nahorski MS, Macdonald F, Claessens T, Van Geel M, Gijezen L, Gille JJ, Giraud S, Richard S, van Steensel M, Menko FH, Maher ER. Lim DH, et al. Among authors: nahorski ms. Hum Mutat. 2010 Jan;31(1):E1043-51. doi: 10.1002/humu.21130. Hum Mutat. 2010. PMID: 19802896

3

Investigation of the Birt-Hogg-Dube tumour suppressor gene (FLCN) in familial and sporadic colorectal cancer.

Nahorski MS, Lim DH, Martin L, Gille JJ, McKay K, Rehal PK, Ploeger HM, van Steensel M, Tomlinson IP, Latif F, Menko FH, Maher ER. Nahorski MS, et al. J Med Genet. 2010 Jun;47(6):385-90. doi: 10.1136/jmg.2009.073304. J Med Genet. 2010. PMID: 20522427

4

Therapeutic targeting the loss of the birt-hogg-dube suppressor gene.

Lu X, Wei W, Fenton J, Nahorski MS, Rabai E, Reiman A, Seabra L, Nagy Z, Latif F, Maher ER. Lu X, et al. Among authors: nahorski ms. Mol Cancer Ther. 2011 Jan;10(1):80-9. doi: 10.1158/1535-7163.MCT-10-0628. Mol Cancer Ther. 2011. PMID: 21220493

5

Birt Hogg-Dubé syndrome-associated FLCN mutations disrupt protein stability.

Nahorski MS, Reiman A, Lim DH, Nookala RK, Seabra L, Lu X, Fenton J, Boora U, Nordenskjöld M, Latif F, Hurst LD, Maher ER. Nahorski MS, et al. Hum Mutat. 2011 Aug;32(8):921-9. doi: 10.1002/humu.21519. Epub 2011 Jul 12. Hum Mutat. 2011. PMID: 21538689

6

Folliculin interacts with p0071 (plakophilin-4) and deficiency is associated with disordered RhoA signalling, epithelial polarization and cytokinesis.

Nahorski MS, Seabra L, Straatman-Iwanowska A, Wingenfeld A, Reiman A, Lu X, Klomp JA, Teh BT, Hatzfeld M, Gissen P, Maher ER. Nahorski MS, et al. Hum Mol Genet. 2012 Dec 15;21(24):5268-79. doi: 10.1093/hmg/dds378. Epub 2012 Sep 10. Hum Mol Genet. 2012. PMID: 22965878 Free PMC article.

7

Gene expression and protein array studies of folliculin-regulated pathways.

Reiman A, Lu X, Seabra L, Boora U, Nahorski MS, Wei W, Maher ER. Reiman A, et al. Among authors: nahorski ms. Anticancer Res. 2012 Nov;32(11):4663-70. Anticancer Res. 2012. PMID: 23155228

8

New Mendelian Disorders of Painlessness.

Nahorski MS, Chen YC, Woods CG. Nahorski MS, et al. Trends Neurosci. 2015 Nov;38(11):712-724. doi: 10.1016/j.tins.2015.08.010. Trends Neurosci. 2015. PMID: 26549885 Review.

9

CCDC88A mutations cause PEHO-like syndrome in humans and mouse.

Nahorski MS, Asai M, Wakeling E, Parker A, Asai N, Canham N, Holder SE, Chen YC, Dyer J, Brady AF, Takahashi M, Woods CG. Nahorski MS, et al. Brain. 2016 Apr;139(Pt 4):1036-44. doi: 10.1093/brain/aww014. Epub 2016 Feb 25. Brain. 2016. PMID: 26917597 Free PMC article.

10

A Comprehensive Functional Analysis of NTRK1 Missense Mutations Causing Hereditary Sensory and Autonomic Neuropathy Type IV (HSAN IV).

Shaikh SS, Chen YC, Halsall SA, Nahorski MS, Omoto K, Young GT, Phelan A, Woods CG. Shaikh SS, et al. Among authors: nahorski ms. Hum Mutat. 2017 Jan;38(1):55-63. doi: 10.1002/humu.23123. Epub 2016 Nov 26. Hum Mutat. 2017. PMID: 27676246 Free PMC article.

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