PMC Links for Protein (Select 1182924660) - PMC

Select item 59613521.

SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20

Dale Bryant, Yang Liu, Sanchari Datta, Hanaa Hariri, Marian Seda, Glenn Anderson, Emma Peskett, Charalambos Demetriou, Sergio Sousa, Dagan Jenkins, Peter Clayton, Maria Bitner-Glindzicz, Gudrun E Moore, W Mike Henne, Philip Stanier

Hum Mol Genet. 2018 Jun 1; 27(11): 1927–1940. Published online 2018 Apr 9. doi: 10.1093/hmg/ddy101

PMCID:: PMC5961352

Abstract Article PDF–1.7M

Select item 52412222.

Autosomal Recessive Spinocerebellar Ataxia 20: Report of a New Patient and Review of Literature

Anju Shukla, Priyanka Upadhyai, Jhanvi Shah, Neethukrishna K, Stephanie Bielas, Girisha KM

Eur J Med Genet. Author manuscript; available in PMC 2018 Feb 1.

Published in final edited form as: Eur J Med Genet. 2017 Feb; 60(2): 118–123. Published online 2016 Nov 29. doi: 10.1016/j.ejmg.2016.11.006

PMCID:: PMC5241222

Abstract Article PDF–1.0M

Select item 44148673.

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

Naiara Akizu, Vincent Cantagrel, Maha S. Zaki, Lihadh Al-Gazali, Xin Wang, Rasim Ozgur Rosti, Esra Dikoglu, Antoinette Bernabe Gelot, Basak Rosti, Keith K. Vaux, Eric M. Scott, Jennifer L. Silhavy, Jana Schroth, Brett Copeland, Ashleigh E. Schaffer, Philip Gordts, Jeffrey D. Esko, Matthew D. Buschman, Seth J. Fields, Gennaro Napolitano, R. Koksal Ozgul, Mahmut Samil Sagiroglu, Matloob Azam, Samira Ismail, Mona Aglan, Laila Selim, Iman Gamal, Sawsan Abdel Hadi, Amera El Badawy, Abdelrahim A. Sadek, Faezeh Mojahedi, Hulya Kayserili, Amira Masri, Laila Bastaki, Samia Temtamy, Ulrich Müller, Isabelle Desguerre, Jean-Laurent Casanova, Ali Dursun, Murat Gunel, Stacey B. Gabriel, Pascale de Lonlay, Joseph G. Gleeson

Nat Genet. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Nat Genet. 2015 May; 47(5): 528–534. Published online 2015 Apr 6. doi: 10.1038/ng.3256

PMCID:: PMC4414867

Abstract Article PDF–2.3M

Select item 42256334.

Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome

Anna C. Thomas, Hywel Williams, Núria Setó-Salvia, Chiara Bacchelli, Dagan Jenkins, Mary O’Sullivan, Konstantinos Mengrelis, Miho Ishida, Louise Ocaka, Estelle Chanudet, Chela James, Francesco Lescai, Glenn Anderson, Deborah Morrogh, Mina Ryten, Andrew J. Duncan, Yun Jin Pai, Jorge M. Saraiva, Fabiana Ramos, Bernadette Farren, Dawn Saunders, Bertrand Vernay, Paul Gissen, Anna Straatmaan-Iwanowska, Frank Baas, Nicholas W. Wood, Joshua Hersheson, Henry Houlden, Jane Hurst, Richard Scott, Maria Bitner-Glindzicz, Gudrun E. Moore, Sérgio B. Sousa, Philip Stanier

Am J Hum Genet. 2014 Nov 6; 95(5): 611–621. doi: 10.1016/j.ajhg.2014.10.007

Correction in:: Am J Hum Genet. 2015 Jun 4; 96(6): 1008–1009.

PMCID:: PMC4225633

Abstract Article PDF–1.7M

Select item 41925065.

Structural Basis for Different Phosphoinositide Specificities of the PX Domains of Sorting Nexins Regulating G-protein Signaling

Caroline Mas, Suzanne J. Norwood, Andrea Bugarcic, Genevieve Kinna, Natalya Leneva, Oleksiy Kovtun, Rajesh Ghai, Lorena E. Ona Yanez, Jasmine L. Davis, Rohan D. Teasdale, Brett M. Collins

J Biol Chem. 2014 Oct 10; 289(41): 28554–28568. Published online 2014 Aug 22. doi: 10.1074/jbc.M114.595959

PMCID:: PMC4192506

Abstract Article PDF–7.0M

Select item 12222536.

The Phox homology (PX) domain, a new player in phosphoinositide signalling.

Y Xu, L F Seet, B Hanson, W Hong

Biochem J. 2001 Dec 15; 360(Pt 3): 513–530. doi: 10.1042/0264-6021:3600513

PMCID:: PMC1222253

Summary PDF–657K

Select item 12220267.

A large family of endosome-localized proteins related to sorting nexin 1.

R D Teasdale, D Loci, F Houghton, L Karlsson, P A Gleeson

Biochem J. 2001 Aug 15; 358(Pt 1): 7–16. doi: 10.1042/0264-6021:3580007

PMCID:: PMC1222026

Summary PDF–439K

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