Integrating structural and evolutionary data to interpret variation and pathogenicity in adapter protein complex 4

Novel Insights Into The Clinical And Molecular Spectrum Of Congenital Disorders of Autophagy

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NGPhylogeny.fr: new generation phylogenetic services for non-specialists

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Genetic diversity of CHC22 clathrin impacts its function in glucose metabolism

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Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking

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Comprehensive Analysis of Constraint on the Spatial Distribution of Missense Variants in Human Protein Structures

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Three-dimensional spatial analysis of missense variants in RTEL1 identifies pathogenic variants in patients with Familial Interstitial Pneumonia

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Datamonkey 2.0: A Modern Web Application for Characterizing Selective and Other Evolutionary Processes

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

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ClinVar at five years: Delivering on the promise

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ClinVar: improving access to variant interpretations and supporting evidence

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Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia

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

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rehh2.0: a reimplementation of the R packagerehhto detect positive selection from haplotype structure

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ConSurf 2016: an improved methodology to estimate and visualize evolutionary conservation in macromolecules

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Molecular Basis for the Interaction Between AP4 β4 and its Accessory Protein, Tepsin

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

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A global reference for human genetic variation

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The Phyre2 web portal for protein modeling, prediction and analysis

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Forty Years of Clathrin-coated Vesicles

(2015) Margaret S. Robinson   TRAFFIC

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

(2015) Katia Hardies et al.   HUMAN MOLECULAR GENETICS

Autosomal recessive spastic tetraplegia caused byAP4M1andAP4B1gene mutation: Expansion of the facial and neuroimaging features

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SNPsnap: a Web-based tool for identification and annotation of matched SNPs

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An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome

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Structural and Functional Characterization of Cargo-Binding Sites on the μ4-Subunit of Adaptor Protein Complex 4

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MAFFT Multiple Sequence Alignment Software Version 7: Improvements in Performance and Usability

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The clathrin adaptor complexes as a paradigm for membrane-associated allostery

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Cargo Recognition in Clathrin-Mediated Endocytosis

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A Structure-Based Mechanism for Arf1-Dependent Recruitment of Coatomer to Membranes

(2012) Xinchao Yu et al.   CELL

Multivariate proteomic profiling identifies novel accessory proteins of coated vesicles

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Adaptor Protein Complexes AP-4 and AP-5: New Players in Endosomal Trafficking and Progressive Spastic Paraplegia

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

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Deep sequencing reveals 50 novel genes for recessive cognitive disorders

(2011) Hossein Najmabadi et al.   NATURE

The Epsilon Hinge-Ear Region Regulates Membrane Localization of the AP-4 Complex

(2011) Lucia Paolini et al.   TRAFFIC

A Large-Scale Conformational Change Couples Membrane Recruitment to Cargo Binding in the AP2 Clathrin Adaptor Complex

(2010) Lauren P. Jackson et al.   CELL

Sorting of the Alzheimer's Disease Amyloid Precursor Protein Mediated by the AP-4 Complex

(2010) Patricia V. Burgos et al.   DEVELOPMENTAL CELL

A structural explanation for the binding of endocytic dileucine motifs by the AP2 complex

(2008) Bernard T. Kelly et al.   NATURE