Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility

Keratins in health and disease

(2015) Diana M Toivola et al.   CURRENT OPINION IN CELL BIOLOGY

Serendipitous SAD Solution for DMSO-Soaked SOCS2-ElonginC-ElonginB Crystals Using Covalently Incorporated Dimethylarsenic: Insights into Substrate Receptor Conformational Flexibility in Cullin RING Ligases

(2015) Morgan S. Gadd et al.   PLoS One

Spatially resolved, highly multiplexed RNA profiling in single cells

(2015) K. H. Chen et al.   SCIENCE

Tissue-based map of the human proteome

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The Genetics of Skin Fragility

(2014) Cristina Has et al.   Annual Review of Genomics and Human Genetics

Structural and biochemical characterization of the KLHL3–WNK kinase interaction important in blood pressure regulation

(2014) Frances-Rose Schumacher et al.   BIOCHEMICAL JOURNAL

Inherited epidermolysis bullosa: Updated recommendations on diagnosis and classification

(2014) Jo-David Fine et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

The emerging family of CULLIN3-RING ubiquitin ligases (CRL3s): cellular functions and disease implications

(2013) Pascal Genschik et al.   EMBO JOURNAL

Structural Basis for Cul3 Protein Assembly with the BTB-Kelch Family of E3 Ubiquitin Ligases

(2013) Peter Canning et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Keratins as the main component for the mechanical integrity of keratinocytes

(2013) L. Ramms et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A microRNA encoded by HSV-1 inhibits a cellular transcriptional repressor of viral immediate early and early genes

(2013) WenJuan Wu et al.   Science China-Life Sciences

The expanding significance of keratin intermediate filaments in normal and diseased epithelia

(2012) Xiaoou Pan et al.   CURRENT OPINION IN CELL BIOLOGY

The Role of Systematic Reviews and Meta-analysis in Dermatology

(2012) Katrina Abuabara et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Defining Keratin Protein Function in Skin Epithelia: Epidermolysis Bullosa Simplex and Its Aftermath

(2012) Pierre A. Coulombe et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Understanding Cullin-RING E3 Biology through Proteomics-based Substrate Identification

(2012) J. Wade Harper et al.   MOLECULAR & CELLULAR PROTEOMICS

Ubiquitin Ligase Activity of Cul3-KLHL7 Protein Is Attenuated by Autosomal Dominant Retinitis Pigmentosa Causative Mutation

(2011) Yu Kigoshi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The predator becomes the prey: regulating the ubiquitin system by ubiquitylation and degradation

(2011) Allan M. Weissman et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Dynamics of Cullin-RING Ubiquitin Ligase Network Revealed by Systematic Quantitative Proteomics

(2010) Eric J. Bennett et al.   CELL

The ubiquitin ligase CHIP/STUB1 targets mutant keratins for degradation

(2010) Stefanie Löffek et al.   HUMAN MUTATION

A Homozygous Nonsense Mutation within the Dystonin Gene Coding for the Coiled-Coil Domain of the Epithelial Isoform of BPAG1 Underlies a New Subtype of Autosomal Recessive Epidermolysis Bullosa Simplex

(2010) Richard W. Groves et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

Structures of SPOP-Substrate Complexes: Insights into Molecular Architectures of BTB-Cul3 Ubiquitin Ligases

(2009) Min Zhuang et al.   MOLECULAR CELL

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

A Gene Signature-Based Approach Identifies mTOR as a Regulator of p73

(2008) J. M. Rosenbluth et al.   MOLECULAR AND CELLULAR BIOLOGY

Imaging individual mRNA molecules using multiple singly labeled probes

(2008) Arjun Raj et al.   NATURE METHODS

Isolation and short-term culture of primary keratinocytes, hair follicle populations and dermal cells from newborn mice and keratinocytes from adult mice for in vitro analysis and for grafting to immunodeficient mice

(2008) Ulrike Lichti et al.   Nature Protocols

The BTB/kelch protein, KRIP6, modulates the interaction of PICK1 with GluR6 kainate receptors

(2008) Fernanda Laezza et al.   NEUROPHARMACOLOGY

The Human Intermediate Filament Database: comprehensive information on a gene family involved in many human diseases

(2007) Ildiko Szeverenyi et al.   HUMAN MUTATION