PMC Links for Books (Select 4678786) - PMC

Select item 61604511.

AP-4 vesicles contribute to spatial control of autophagy via RUSC-dependent peripheral delivery of ATG9A

Alexandra K. Davies, Daniel N. Itzhak, James R. Edgar, Tara L. Archuleta, Jennifer Hirst, Lauren P. Jackson, Margaret S. Robinson, Georg H. H. Borner

Nat Commun. 2018; 9: 3958. Published online 2018 Sep 27. doi: 10.1038/s41467-018-06172-7

PMCID:: PMC6160451

Abstract Article PDF–9.3M

Select item 59402382.

Altered distribution of ATG9A and accumulation of axonal aggregates in neurons from a mouse model of AP-4 deficiency syndrome

Raffaella De Pace, Miguel Skirzewski, Markus Damme, Rafael Mattera, Jeffrey Mercurio, Arianne M. Foster, Loreto Cuitino, Michal Jarnik, Victoria Hoffmann, H. Douglas Morris, Tae-Un Han, Grazia M. S. Mancini, Andrés Buonanno, Juan S. Bonifacino

PLoS Genet. 2018 Apr; 14(4): e1007363. Published online 2018 Apr 26. doi: 10.1371/journal.pgen.1007363

PMCID:: PMC5940238

Abstract Article PDF–18M

Select item 58205973.

AP4 deficiency: A novel form of neurodegeneration with brain iron accumulation?

Agathe Roubertie, Nelson Hieu, Charles-Joris Roux, Nicolas Leboucq, Gael Manes, Majida Charif, Bernard Echenne, Cyril Goizet, Claire Guissart, Pierre Meyer, Cecilia Marelli, François Rivier, Lydie Burglen, Rita Horvath, Christian P. Hamel, Guy Lenaers

Neurol Genet. 2018 Feb; 4(1): e217. Published online 2018 Jan 24. doi: 10.1212/NXG.0000000000000217

PMCID:: PMC5820597

Abstract Article PDF–427K

Select item 57406294.

AP-4 mediates export of ATG9A from the trans-Golgi network to promote autophagosome formation

Rafael Mattera, Sang Yoon Park, Raffaella De Pace, Carlos M. Guardia, Juan S. Bonifacino

Proc Natl Acad Sci U S A. 2017 Dec 12; 114(50): E10697–E10706. Published online 2017 Nov 27. doi: 10.1073/pnas.1717327114

PMCID:: PMC5740629

Abstract Article PDF–3.3M

Select item 48055035.

Molecular basis for the interaction between Adaptor Protein Complex 4 (AP4) β4 and its accessory protein, tepsin

Meredith N. Frazier, Alexandra K. Davies, Markus Voehler, Amy K. Kendall, Georg H. H. Borner, Walter J. Chazin, Margaret S. Robinson, Lauren P. Jackson

Traffic. Author manuscript; available in PMC 2017 Apr 1.

Published in final edited form as: Traffic. 2016 Apr; 17(4): 400–415. Published online 2016 Mar 4. doi: 10.1111/tra.12375

PMCID:: PMC4805503

Abstract Article PDF–1.8M

Select item 46922046.

Bivalent Motif-Ear Interactions Mediate the Association of the Accessory Protein Tepsin with the AP-4 Adaptor Complex

Rafael Mattera, Carlos M. Guardia, Sachdev S. Sidhu, Juan S. Bonifacino

J Biol Chem. 2015 Dec 25; 290(52): 30736–30749. Published online 2015 Nov 5. doi: 10.1074/jbc.M115.683409

PMCID:: PMC4692204

Abstract Article PDF–3.9M

Select item 46671297.

Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering

M. Hashim Raza, Rafael Mattera, Robert Morell, Eduardo Sainz, Rachel Rahn, Joanne Gutierrez, Emily Paris, Jessica Root, Beth Solomon, Carmen Brewer, M. Asim Raza Basra, Shaheen Khan, Sheikh Riazuddin, Allen Braun, Juan S. Bonifacino, Dennis Drayna

Am J Hum Genet. 2015 Nov 5; 97(5): 715–725. Published online 2015 Nov 5. doi: 10.1016/j.ajhg.2015.10.007

PMCID:: PMC4667129

Abstract Article PDF–1.0M

Select item 45447538.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

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

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Abstract Article PDF–960K

Select item 43800709.

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 404549910.

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

John K. Fink

Acta Neuropathol. Author manuscript; available in PMC 2014 Jun 4.

Published in final edited form as: Acta Neuropathol. 2013 Sep; 126(3): 307–328. Published online 2013 Jul 30. doi: 10.1007/s00401-013-1115-8

PMCID:: PMC4045499

Abstract Article PDF–458K

Select item 315073011.

Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability

Andres Moreno-De-Luca, Sandra L Helmers, Hui Mao, Thomas G Burns, Amanda M A Melton, Karen R Schmidt, Paul M Fernhoff, David H Ledbetter, Christa L Martin

J Med Genet. Author manuscript; available in PMC 2012 Feb 1.

Published in final edited form as: J Med Genet. 2011 Feb; 48(2): 141–144. Published online 2010 Oct 23. doi: 10.1136/jmg.2010.082263

PMCID:: PMC3150730

Abstract Article PDF–321K

Select item 311325312.

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 270696513.

Mutation in the AP4M1 Gene Provides a Model for Neuroaxonal Injury in Cerebral Palsy

Annemieke J.M.H. Verkerk, Rachel Schot, Belinda Dumee, Karlijn Schellekens, Sigrid Swagemakers, Aida M. Bertoli-Avella, Maarten H. Lequin, Jeroen Dudink, Paul Govaert, A.L. van Zwol, Jennifer Hirst, Marja W. Wessels, Coriene Catsman-Berrevoets, Frans W. Verheijen, Esther de Graaff, Irenaeus F.M. de Coo, Johan M. Kros, Rob Willemsen, Patrick J. Willems, Peter J. van der Spek, Grazia M.S. Mancini

Am J Hum Genet. 2009 Jul 10; 85(1): 40–52. doi: 10.1016/j.ajhg.2009.06.004

PMCID:: PMC2706965

Abstract Article PDF–1.2M

Select item 2551514.

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

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