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Re-examining physician-scientist training through the prism of the discovery-invention cycle.

Sarma GP, Levey A, Faundez V.

F1000Res. 2019 Dec 19;8:2123. doi: 10.12688/f1000research.21448.1. eCollection 2019.


Molecular Systems Biology of Neurodevelopmental Disorders, Rett Syndrome as an Archetype.

Faundez V, Wynne M, Crocker A, Tarquinio D.

Front Integr Neurosci. 2019 Jul 17;13:30. doi: 10.3389/fnint.2019.00030. eCollection 2019.


Patterns of richness of freshwater mollusks from Chile: predictions of its distribution based on null models.

Fuentealba Jara CG, Rivera R, Franco C, Figueroa R, Faúndez V.

PeerJ. 2019 Jul 5;7:e7097. doi: 10.7717/peerj.7097. eCollection 2019.


Adaptor protein-3 complex is required for Vangl2 trafficking and planar cell polarity of the inner ear.

Tower-Gilchrist C, Zlatic SA, Yu D, Chang Q, Wu H, Lin X, Faundez V, Chen P.

Mol Biol Cell. 2019 Aug 15;30(18):2422-2434. doi: 10.1091/mbc.E16-08-0592. Epub 2019 Jul 3.


Ratiometric two-photon microscopy reveals attomolar copper buffering in normal and Menkes mutant cells.

Morgan MT, Bourassa D, Harankhedkar S, McCallum AM, Zlatic SA, Calvo JS, Meloni G, Faundez V, Fahrni CJ.

Proc Natl Acad Sci U S A. 2019 Jun 18;116(25):12167-12172. doi: 10.1073/pnas.1900172116. Epub 2019 Jun 3.


Trafficking mechanisms of P-type ATPase copper transporters.

Hartwig C, Zlatic SA, Wallin M, Vrailas-Mortimer A, Fahrni CJ, Faundez V.

Curr Opin Cell Biol. 2019 Aug;59:24-33. doi: 10.1016/ Epub 2019 Mar 29. Review.


Systems Analysis of the 22q11.2 Microdeletion Syndrome Converges on a Mitochondrial Interactome Necessary for Synapse Function and Behavior.

Gokhale A, Hartwig C, Freeman AAH, Bassell JL, Zlatic SA, Sapp Savas C, Vadlamudi T, Abudulai F, Pham TT, Crocker A, Werner E, Wen Z, Repetto GM, Gogos JA, Claypool SM, Forsyth JK, Bearden CE, Glausier J, Lewis DA, Seyfried NT, Kwong JQ, Faundez V.

J Neurosci. 2019 May 1;39(18):3561-3581. doi: 10.1523/JNEUROSCI.1983-18.2019. Epub 2019 Mar 4.


The Endolysosomal System and Proteostasis: From Development to Degeneration.

Winckler B, Faundez V, Maday S, Cai Q, Guimas Almeida C, Zhang H.

J Neurosci. 2018 Oct 31;38(44):9364-9374. doi: 10.1523/JNEUROSCI.1665-18.2018. Review.


Translating molecular advances in Down syndrome and Fragile X syndrome into therapies.

Faundez V, De Toma I, Bardoni B, Bartesaghi R, Nizetic D, de la Torre R, Cohen Kadosh R, Herault Y, Dierssen M, Potier MC; Down Syndrome and Other Genetic Developmental Disorders ECNP Network.

Eur Neuropsychopharmacol. 2018 Jun;28(6):675-690. doi: 10.1016/j.euroneuro.2018.03.006. Epub 2018 Jun 7. Review.


Rare Disease Mechanisms Identified by Genealogical Proteomics of Copper Homeostasis Mutant Pedigrees.

Zlatic SA, Vrailas-Mortimer A, Gokhale A, Carey LJ, Scott E, Burch R, McCall MM, Rudin-Rush S, Davis JB, Hartwig C, Werner E, Li L, Petris M, Faundez V.

Cell Syst. 2018 Mar 28;6(3):368-380.e6. doi: 10.1016/j.cels.2018.01.008. Epub 2018 Jan 31.


Integrative biological simulation praxis: Considerations from physics, philosophy, and data/model curation practices.

Sarma GP, Faundez V.

Cell Logist. 2017 Nov 29;7(4):e1392400. doi: 10.1080/21592799.2017.1392400. eCollection 2017.


Neurodevelopmental disease mechanisms, primary cilia, and endosomes converge on the BLOC-1 and BORC complexes.

Hartwig C, Monis WJ, Chen X, Dickman DK, Pazour GJ, Faundez V.

Dev Neurobiol. 2018 Mar;78(3):311-330. doi: 10.1002/dneu.22542. Epub 2017 Oct 13. Review.


BLOC-1 is required for selective membrane protein trafficking from endosomes to primary cilia.

Monis WJ, Faundez V, Pazour GJ.

J Cell Biol. 2017 Jul 3;216(7):2131-2150. doi: 10.1083/jcb.201611138. Epub 2017 Jun 2.


The interactome of the copper transporter ATP7A belongs to a network of neurodevelopmental and neurodegeneration factors.

Comstra HS, McArthy J, Rudin-Rush S, Hartwig C, Gokhale A, Zlatic SA, Blackburn JB, Werner E, Petris M, D'Souza P, Panuwet P, Barr DB, Lupashin V, Vrailas-Mortimer A, Faundez V.

Elife. 2017 Mar 29;6. pii: e24722. doi: 10.7554/eLife.24722.


Dysbindin Deficiency Modifies the Expression of GABA Neuron and Ion Permeation Transcripts in the Developing Hippocampus.

Larimore J, Zlatic SA, Arnold M, Singleton KS, Cross R, Rudolph H, Bruegge MV, Sweetman A, Garza C, Whisnant E, Faundez V.

Front Genet. 2017 Mar 10;8:28. doi: 10.3389/fgene.2017.00028. eCollection 2017.


Cellular and molecular mechanisms of neurodevelopmental disorders.

Ghiani CA, Faundez V.

J Neurosci Res. 2017 May;95(5):1093-1096. doi: 10.1002/jnr.24041. Epub 2017 Feb 22. No abstract available.


The Proteome of BLOC-1 Genetic Defects Identifies the Arp2/3 Actin Polymerization Complex to Function Downstream of the Schizophrenia Susceptibility Factor Dysbindin at the Synapse.

Gokhale A, Hartwig C, Freeman AH, Das R, Zlatic SA, Vistein R, Burch A, Carrot G, Lewis AF, Nelms S, Dickman DK, Puthenveedu MA, Cox DN, Faundez V.

J Neurosci. 2016 Dec 7;36(49):12393-12411.


The Endosome Localized Arf-GAP AGAP1 Modulates Dendritic Spine Morphology Downstream of the Neurodevelopmental Disorder Factor Dysbindin.

Arnold M, Cross R, Singleton KS, Zlatic S, Chapleau C, Mullin AP, Rolle I, Moore CC, Theibert A, Pozzo-Miller L, Faundez V, Larimore J.

Front Cell Neurosci. 2016 Sep 22;10:218. eCollection 2016.


BLOC-1 Brings Together the Actin and Microtubule Cytoskeletons to Generate Recycling Endosomes.

Delevoye C, Heiligenstein X, Ripoll L, Gilles-Marsens F, Dennis MK, Linares RA, Derman L, Gokhale A, Morel E, Faundez V, Marks MS, Raposo G.

Curr Biol. 2016 Jan 11;26(1):1-13. doi: 10.1016/j.cub.2015.11.020. Epub 2015 Dec 24.


Identification of the Interactome of a Palmitoylated Membrane Protein, Phosphatidylinositol 4-Kinase Type II Alpha.

Gokhale A, Ryder PV, Zlatic SA, Faundez V.

Methods Mol Biol. 2016;1376:35-42. doi: 10.1007/978-1-4939-3170-5_4.


Anatomical localization of Cav3.1 calcium channels and electrophysiological effects of T-type calcium channel blockade in the motor thalamus of MPTP-treated monkeys.

Devergnas A, Chen E, Ma Y, Hamada I, Pittard D, Kammermeier S, Mullin AP, Faundez V, Lindsley CW, Jones C, Smith Y, Wichmann T.

J Neurophysiol. 2016 Jan 1;115(1):470-85. doi: 10.1152/jn.00858.2015. Epub 2015 Nov 4.


Neuronal copper homeostasis susceptibility by genetic defects in dysbindin, a schizophrenia susceptibility factor.

Gokhale A, Vrailas-Mortimer A, Larimore J, Comstra HS, Zlatic SA, Werner E, Manvich DF, Iuvone PM, Weinshenker D, Faundez V.

Hum Mol Genet. 2015 Oct 1;24(19):5512-23. doi: 10.1093/hmg/ddv282. Epub 2015 Jul 21.


EMBO workshop al fin del mundo: a meeting on membrane trafficking and its implication for polarity and diseases.

Marzolo MP, Faundez V, Galli T.

Biol Cell. 2015 Jul;107(7):245-8. doi: 10.1111/boc.201570100.


The N-ethylmaleimide-sensitive factor and dysbindin interact to modulate synaptic plasticity.

Gokhale A, Mullin AP, Zlatic SA, Easley CA 4th, Merritt ME, Raj N, Larimore J, Gordon DE, Peden AA, Sanyal S, Faundez V.

J Neurosci. 2015 May 13;35(19):7643-53. doi: 10.1523/JNEUROSCI.4724-14.2015.


Molecular basis of neurodegeneration and neurodevelopmental defects in Menkes disease.

Zlatic S, Comstra HS, Gokhale A, Petris MJ, Faundez V.

Neurobiol Dis. 2015 Sep;81:154-61. doi: 10.1016/j.nbd.2014.12.024. Epub 2015 Jan 10. Review.


Gene dosage in the dysbindin schizophrenia susceptibility network differentially affect synaptic function and plasticity.

Mullin AP, Sadanandappa MK, Ma W, Dickman DK, VijayRaghavan K, Ramaswami M, Sanyal S, Faundez V.

J Neurosci. 2015 Jan 7;35(1):325-38. doi: 10.1523/JNEUROSCI.3542-14.2015.


Neuronal and immune synapses on the move at traffic.

Billadeau DD, Faundez V.

Traffic. 2015 Mar;16(3):227-8. doi: 10.1111/tra.12251. No abstract available.


Vesicles derived via AP-3-dependent recycling contribute to asynchronous release and influence information transfer.

Evstratova A, Chamberland S, Faundez V, Tóth K.

Nat Commun. 2014 Nov 20;5:5530. doi: 10.1038/ncomms6530.


Mutations in the BLOC-1 subunits dysbindin and muted generate divergent and dosage-dependent phenotypes.

Larimore J, Zlatic SA, Gokhale A, Tornieri K, Singleton KS, Mullin AP, Tang J, Talbot K, Faundez V.

J Biol Chem. 2014 May 16;289(20):14291-300. doi: 10.1074/jbc.M114.553750. Epub 2014 Apr 8.


Desmosome assembly and disassembly are membrane raft-dependent.

Stahley SN, Saito M, Faundez V, Koval M, Mattheyses AL, Kowalczyk AP.

PLoS One. 2014 Jan 30;9(1):e87809. doi: 10.1371/journal.pone.0087809. eCollection 2014.


Neurodevelopmental disorders: mechanisms and boundary definitions from genomes, interactomes and proteomes.

Mullin AP, Gokhale A, Moreno-De-Luca A, Sanyal S, Waddington JL, Faundez V.

Transl Psychiatry. 2013 Dec 3;3:e329. doi: 10.1038/tp.2013.108. Review.


Presynaptic membrane retrieval and endosome biology: defining molecularly heterogeneous synaptic vesicles.

Morgan JR, Comstra HS, Cohen M, Faundez V.

Cold Spring Harb Perspect Biol. 2013 Oct 1;5(10):a016915. doi: 10.1101/cshperspect.a016915. Review.


Vps33b pathogenic mutations preferentially affect VIPAS39/SPE-39-positive endosomes.

Tornieri K, Zlatic SA, Mullin AP, Werner E, Harrison R, L'hernault SW, Faundez V.

Hum Mol Genet. 2013 Dec 20;22(25):5215-28. doi: 10.1093/hmg/ddt378. Epub 2013 Aug 4.


The N-BAR domain protein, Bin3, regulates Rac1- and Cdc42-dependent processes in myogenesis.

Simionescu-Bankston A, Leoni G, Wang Y, Pham PP, Ramalingam A, DuHadaway JB, Faundez V, Nusrat A, Prendergast GC, Pavlath GK.

Dev Biol. 2013 Oct 1;382(1):160-71. doi: 10.1016/j.ydbio.2013.07.004. Epub 2013 Jul 16.


Chemical-genetic disruption of clathrin function spares adaptor complex 3-dependent endosome vesicle biogenesis.

Zlatic SA, Grossniklaus EJ, Ryder PV, Salazar G, Mattheyses AL, Peden AA, Faundez V.

Mol Biol Cell. 2013 Aug;24(15):2378-88. doi: 10.1091/mbc.E12-12-0860. Epub 2013 Jun 12.


MeCP2 regulates the synaptic expression of a Dysbindin-BLOC-1 network component in mouse brain and human induced pluripotent stem cell-derived neurons.

Larimore J, Ryder PV, Kim KY, Ambrose LA, Chapleau C, Calfa G, Gross C, Bassell GJ, Pozzo-Miller L, Smith Y, Talbot K, Park IH, Faundez V.

PLoS One. 2013 Jun 4;8(6):e65069. doi: 10.1371/journal.pone.0065069. Print 2013.


A comprehensive strategy to identify stoichiometric membrane protein interactomes.

Gokhale A, Perez-Cornejo P, Duran C, Hartzell HC, Faundez V.

Cell Logist. 2012 Oct 1;2(4):189-196.


The WASH complex, an endosomal Arp2/3 activator, interacts with the Hermansky-Pudlak syndrome complex BLOC-1 and its cargo phosphatidylinositol-4-kinase type IIα.

Ryder PV, Vistein R, Gokhale A, Seaman MN, Puthenveedu MA, Faundez V.

Mol Biol Cell. 2013 Jul;24(14):2269-84. doi: 10.1091/mbc.E13-02-0088. Epub 2013 May 15.


p120-catenin binding masks an endocytic signal conserved in classical cadherins.

Nanes BA, Chiasson-MacKenzie C, Lowery AM, Ishiyama N, Faundez V, Ikura M, Vincent PA, Kowalczyk AP.

J Cell Biol. 2012 Oct 15;199(2):365-80. doi: 10.1083/jcb.201205029.


Anoctamin 1 (Tmem16A) Ca2+-activated chloride channel stoichiometrically interacts with an ezrin-radixin-moesin network.

Perez-Cornejo P, Gokhale A, Duran C, Cui Y, Xiao Q, Hartzell HC, Faundez V.

Proc Natl Acad Sci U S A. 2012 Jun 26;109(26):10376-81. doi: 10.1073/pnas.1200174109. Epub 2012 Jun 8.


Calcyon, a mammalian specific NEEP21 family member, interacts with adaptor protein complex 3 (AP-3) and regulates targeting of AP-3 cargoes.

Muthusamy N, Faundez V, Bergson C.

J Neurochem. 2012 Oct;123(1):60-72. doi: 10.1111/j.1471-4159.2012.07814.x. Epub 2012 Aug 14.


Quantitative proteomic and genetic analyses of the schizophrenia susceptibility factor dysbindin identify novel roles of the biogenesis of lysosome-related organelles complex 1.

Gokhale A, Larimore J, Werner E, So L, Moreno-De-Luca A, Lese-Martin C, Lupashin VV, Smith Y, Faundez V.

J Neurosci. 2012 Mar 14;32(11):3697-711. doi: 10.1523/JNEUROSCI.5640-11.2012.


The schizophrenia susceptibility factor dysbindin and its associated complex sort cargoes from cell bodies to the synapse.

Larimore J, Tornieri K, Ryder PV, Gokhale A, Zlatic SA, Craige B, Lee JD, Talbot K, Pare JF, Smith Y, Faundez V.

Mol Biol Cell. 2011 Dec;22(24):4854-67. doi: 10.1091/mbc.E11-07-0592. Epub 2011 Oct 12.


Metazoan cell biology of the HOPS tethering complex.

Zlatic SA, Tornieri K, L'hernault SW, Faundez V.

Cell Logist. 2011 May;1(3):111-117.


Cell biology of the BLOC-1 complex subunit dysbindin, a schizophrenia susceptibility gene.

Mullin AP, Gokhale A, Larimore J, Faundez V.

Mol Neurobiol. 2011 Aug;44(1):53-64. doi: 10.1007/s12035-011-8183-3. Epub 2011 Apr 26. Review.


Clathrin-dependent mechanisms modulate the subcellular distribution of class C Vps/HOPS tether subunits in polarized and nonpolarized cells.

Zlatic SA, Tornieri K, L'Hernault SW, Faundez V.

Mol Biol Cell. 2011 May 15;22(10):1699-715. doi: 10.1091/mbc.E10-10-0799. Epub 2011 Mar 16.


Tissue nonspecific alkaline phosphatase is activated via a two-step mechanism by zinc transport complexes in the early secretory pathway.

Fukunaka A, Kurokawa Y, Teranishi F, Sekler I, Oda K, Ackland ML, Faundez V, Hiromura M, Masuda S, Nagao M, Enomoto S, Kambe T.

J Biol Chem. 2011 May 6;286(18):16363-73. doi: 10.1074/jbc.M111.227173. Epub 2011 Mar 14.


On the endosomal function and gene nomenclature of human SPE-39.

L'Hernault SW, Faundez V.

Nat Genet. 2011 Mar;43(3):176. doi: 10.1038/ng0311-176. No abstract available.


[Body composition assessment in patients with chronic renal failure].

Cano M, Camousseigt J, Carrasco F, Rojas P, Inostroza J, Pardo A, Faundez V, Loncon P, Pacheco A, Sanhueza ME.

Nutr Hosp. 2010 Jul-Aug;25(4):682-7. Spanish.


An AP-3-dependent mechanism drives synaptic-like microvesicle biogenesis in pancreatic islet beta-cells.

Suckow AT, Craige B, Faundez V, Cain WJ, Chessler SD.

Am J Physiol Endocrinol Metab. 2010 Jul;299(1):E23-32. doi: 10.1152/ajpendo.00664.2009. Epub 2010 May 4.

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