PMC Links for Protein (Select 21361394) - PMC

Select item 43800701.

Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly

Katia Hardies, Patrick May, Tania Djémié, Oana Tarta-Arsene, Tine Deconinck, Dana Craiu, AR working group of the EuroEPINOMICS RES Consortium, Ingo Helbig, Arvid Suls, Rudy Balling, Sarah Weckhuysen, Peter De Jonghe, Jennifer Hirst, AR working group of the EuroEPINOMICS RES Consortium, Zaid Afawi, Nina Barisic, Stéphanie Baulac, Hande Caglayan, Christel Depienne, Carolien G.F. De Kovel, Petia Dimova, Rosa Guerrero-López, Renzo Guerrini, Helle Hjalgrim, Dorota Hoffman-Zacharska, Johanna Jahn, Karl Martin Klein, Bobby P.C. Koeleman, Eric Leguern, Anna-Elina Lehesjoki, Johannes Lemke, Holger Lerche, Carla Marini, Hiltrud Muhle, Felix Rosenow, Jose M. Serratosa, Rikke S. Møller, Ulrich Stephani, Pasquale Striano, Tiina Talvik, Sarah Von Spiczak, Yvonne Weber, Federico Zara

Hum Mol Genet. 2015 Apr 15; 24(8): 2218–2227. Published online 2014 Dec 30. doi: 10.1093/hmg/ddu740

PMCID:: PMC4380070

Abstract Article PDF–436K

Select item 31132532.

Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature

Rami Abou Jamra, Orianne Philippe, Annick Raas-Rothschild, Sebastian H. Eck, Elisabeth Graf, Rebecca Buchert, Guntram Borck, Arif Ekici, Felix F. Brockschmidt, Markus M. Nöthen, Arnold Munnich, Tim M. Strom, Andre Reis, Laurence Colleaux

Am J Hum Genet. 2011 Jun 10; 88(6): 788–795. doi: 10.1016/j.ajhg.2011.04.019

PMCID:: PMC3113253

Abstract Article PDF–882K

Select item 255153.

Characterization of a Fourth Adaptor-related Protein Complex

Jennifer Hirst, Nicholas A. Bright, Brian Rous, Margaret S. Robinson

Mol Biol Cell. 1999 Aug; 10(8): 2787–2802. doi: 10.1091/mbc.10.8.2787

PMCID:: PMC25515

Abstract Article PDF–776K

Select item 35527014.

HDAM: a resource of human disease associated mutations from next generation sequencing studies

Meiwei Jia, Yanli Liu, Zhongchao Shen, Chen Zhao, Meixia Zhang, Zhenghui Yi, Chengping Wen, Youping Deng, Tieliu Shi

BMC Med Genomics. 2013; 6(Suppl 1): S16. Published online 2013 Jan 23. doi: 10.1186/1755-8794-6-S1-S16

PMCID:: PMC3552701

Abstract Article PDF–1.5M

Select item 601445.

Adaptins: The Final Recount

Markus Boehm, Juan S. Bonifacino

Mol Biol Cell. 2001 Oct; 12(10): 2907–2920. doi: 10.1091/mbc.12.10.2907

PMCID:: PMC60144

Abstract Article PDF–447K

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