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Victor Faundez
Emory University
103Publications
40H-index
4,526Citations
Publications 105
Newest
The training of physician-scientists lies at the heart of future medical research. In this commentary, we apply Narayanamurti and Odumosu’s framework of the “discovery-invention cycle” to analyze the structure and outcomes of the integrated MD/PhD program. We argue that the linear model of “bench-to-bedside” research, which is also reflected in the present training of MD/PhDs, merits continual re-evaluation to capitalize on the richness of opportunities arising in clinical medicine. In addition ...
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#1Cristy Tower-Gilchrist (Emory University)H-Index: 2
#2Stephanie A. Zlatic (Emory University)H-Index: 13
Last.Ping Helen Chen (Emory University)H-Index: 46
view all 8 authors...
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#1Cortnie Hartwig (Emory University)H-Index: 4
#2Stephanie A. Zlatic (Emory University)H-Index: 13
Last.Victor Faundez (Emory University)H-Index: 40
view all 6 authors...
Copper is an essential micronutrient required for oxygen-dependent enzymes, yet excess of the metal is a toxicant. The tug-of-war between these copper activities is balanced by chaperones and membrane transporters, which control copper distribution and availability. The P-type ATPase transporters, ATP7A and ATP7B, regulate cytoplasmic copper by pumping copper out of cells or into the endomembrane system. Mutations in ATP7A and ATP7B cause diseases that share neuropsychiatric phenotypes, which ar...
3 CitationsSource
#1Victor Faundez (Emory University)H-Index: 40
#2Meghan Wynne (Emory University)
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Neurodevelopmental disorders represent a challenging biological and medical problem due to their genetic and phenotypic complexity. In many cases, we lack the comprehensive understanding of disease mechanism necessary for targeted therapeutic development. One key component that could improve both mechanistic understanding and clinical trial design is reliable molecular biomarkers. Presently, no objective biological markers exist to evaluate most neurodevelopmental disorders. Here we discuss how ...
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#1M. Thomas Morgan (Georgia Institute of Technology)H-Index: 6
#2Daisy Bourassa (Georgia Institute of Technology)H-Index: 3
Last.Christoph J. Fahrni (Georgia Institute of Technology)H-Index: 29
view all 9 authors...
Copper is controlled by a sophisticated network of transport and storage proteins within mammalian cells, yet its uptake and efflux occur with rapid kinetics. Present as Cu(I) within the reducing intracellular environment, the nature of this labile copper pool remains elusive. While glutathione is involved in copper homeostasis and has been assumed to buffer intracellular copper, we demonstrate with a ratiometric fluorescent indicator, crisp-17, that cytosolic Cu(I) levels are buffered to the vi...
3 CitationsSource
#1Avanti GokhaleH-Index: 14
#2Cortnie HartwigH-Index: 4
Last.Victor FaundezH-Index: 40
view all 22 authors...
Neurodevelopmental disorders offer insight into synaptic mechanisms. To unbiasedly uncover these mechanisms, we studied the 22q11.2 syndrome, a recurrent copy number variant, which is the highest schizophrenia genetic risk factor. We quantified the proteomes of 22q11.2 mutant human fibroblasts from both sexes and mouse brains carrying a 22q11.2-like defect, Df(16)A +/− . Molecular ontologies defined mitochondrial compartments and pathways as some of top ranked categories. In particular, we ident...
5 CitationsSource
#1Bettina Winckler (University of Virginia Health System)H-Index: 20
#2Victor Faundez (Emory University)H-Index: 40
Last.Huaye Zhang (RU: Rutgers University)H-Index: 1
view all 6 authors...
How do neurons adapt their endolysosomal system to address the particular challenge of membrane transport across their elaborate cellular landscape and to maintain proteostasis for the lifetime of the organism? Here we review recent findings that address this central question. We discuss the cellular and molecular mechanisms of endolysosomal trafficking and the autophagy pathway in neurons, as well as their role in neuronal development and degeneration. These studies highlight the importance of ...
7 CitationsSource
#1Avanti Gokhale (Emory University)H-Index: 14
#2Amanda A. Freeman (Emory University)H-Index: 16
Last.Victor Faundez (Emory University)H-Index: 40
view all 20 authors...
Neurodevelopmental disorders offer insight into synaptic mechanisms. To unbiasedly uncover these mechanisms, we studied the 22q11.2 syndrome, a recurrent copy number variant, which is the highest schizophrenia genetic risk factor. We quantified the proteomes of 22q11.2 mutant human fibroblasts and mouse brains carrying a 22q11.2-like defect, Df(16)A+/-. Molecular ontologies defined mitochondrial compartments and pathways as some of top ranked categories. In particular, we identified perturbation...
4 CitationsSource
#1Cortnie HartwigH-Index: 4
#2William J. MonisH-Index: 3
Last.Victor FaundezH-Index: 40
view all 6 authors...
The Biogenesis of Lysosome-related Organelles Complex-1 (BLOC-1) and the BLOC-One-Related Complex (BORC) are cytosolic protein complexes required for specialized membrane protein traffic along the endocytic route and for the spatial distribution of endosome-derived compartments, respectively. BLOC-1 and BORC complex subunits and components of their interactomes have been associated with the risk and/or pathomechanisms of neurodevelopmental disorders. Thus, cellular processes requiring BLOC-1 and...
3 CitationsSource
#1Stephanie A. Zlatic (Emory University)H-Index: 13
#2Alysia Vrailas-Mortimer (ISU: Illinois State University)H-Index: 6
Last.Victor Faundez (Emory University)H-Index: 40
view all 14 authors...
Summary Rare neurological diseases shed light onto universal neurobiological processes. However, molecular mechanisms connecting genetic defects to their disease phenotypes are elusive. Here, we obtain mechanistic information by comparing proteomes of cells from individuals with rare disorders with proteomes from their disease-free consanguineous relatives. We use triple-SILAC mass spectrometry to quantify proteomes from human pedigrees affected by mutations in ATP7A, which cause Menkes disease,...
6 CitationsSource
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