Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility (Q28975757)

protein autoubiquitination

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author name string

Zhimiao Lin

1

1 reference

21 March 2017

Shuo Li

2

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21 March 2017

Cheng Feng

3

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21 March 2017

Shang Yang

4

1 reference

21 March 2017

Huijun Wang

5

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21 March 2017

Danhui Ma

6

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21 March 2017

Jing Zhang

7

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21 March 2017

Mengting Gou

8

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21 March 2017

Dingfang Bu

9

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21 March 2017

Tengjiang Zhang

10

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21 March 2017

Xiaohui Kong

11

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21 March 2017

Xintong Wang

12

1 reference

21 March 2017

Ofer Sarig

13

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21 March 2017

Yali Ren

14

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21 March 2017

Lanlan Dai

15

1 reference

21 March 2017

Hankui Liu

16

1 reference

21 March 2017

Jianguo Zhang

17

1 reference

21 March 2017

Fei Li

18

1 reference

21 March 2017

Yongyan Hu

19

1 reference

21 March 2017

Gilly Padalon-Brauch

20

1 reference

21 March 2017

Dan Vodo

21

1 reference

21 March 2017

Feng Zhou

22

1 reference

21 March 2017

Ting Chen

23

1 reference

21 March 2017

Haiteng Deng

24

1 reference

21 March 2017

Eli Sprecher

25

1 reference

21 March 2017

Yong Yang

26

1 reference

21 March 2017

Xu Tan

Defining keratin protein function in skin epithelia: epidermolysis bullosa simplex and its aftermath

27

1 reference

21 March 2017

language of work or name

English

0 references

publication date

1 December 2016

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21 March 2017

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21 March 2017

48

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21 March 2017

1508–1516

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21 March 2017

12

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21 March 2017

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Epidermolysis Bullosa Simplex: Evidence in Two Families for Keratin Gene Abnormalities

21 April 2017

1 reference

A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering

21 April 2017

1 reference

Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization

21 April 2017

1 reference

Plectin deficiency results in muscular dystrophy with epidermolysis bullosa

21 April 2017

1 reference

A site-specific plectin mutation causes dominant epidermolysis bullosa simplex Ogna: two identical de novo mutations

21 April 2017

1 reference

Update on the Kelch-like (KLHL) gene family

21 April 2017

1 reference

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

21 April 2017

1 reference

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

21 April 2017

1 reference

Ubiquitin ligase activity of Cul3-KLHL7 protein is attenuated by autosomal dominant retinitis pigmentosa causative mutation

21 April 2017

1 reference

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

21 April 2017

1 reference

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

21 April 2017

1 reference

A method and server for predicting damaging missense mutations

21 April 2017

1 reference

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

21 April 2017

1 reference

Proteomics. Tissue-based map of the human proteome

21 April 2017

2 references

21 April 2017

inferred from DOI database lookup

7 January 2021

based on heuristic

MutationTaster evaluates disease-causing potential of sequence alterations

1 reference

Distribution and intensity of constraint in mammalian genomic sequence

21 April 2017

1 reference

Diseases of epidermal keratins and their linker proteins

21 April 2017

1 reference

Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification

21 January 2018

1 reference

The genetics of skin fragility

21 January 2018

1 reference

The role of systematic reviews and meta-analysis in dermatology.

21 January 2018

1 reference

Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: Genetic and functional analyses

21 January 2018

1 reference

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.

21 January 2018

1 reference

Epidermolysis bullosa simplex in Scotland caused by a spectrum of keratin mutations.

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Keratins in health and disease

21 January 2018

1 reference

Keratins turn over by ubiquitination in a phosphorylation-modulated fashion

21 January 2018

1 reference

The role of the ubiquitin proteasome pathway in keratin intermediate filament protein degradation

21 January 2018

1 reference

Born to bind: the BTB protein-protein interaction domain.

21 January 2018

1 reference

The BACK domain in BTB-kelch proteins.

21 January 2018

1 reference

Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics

21 January 2018

1 reference

KRIP6: a novel BTB/kelch protein regulating function of kainate receptors

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Understanding cullin-RING E3 biology through proteomics-based substrate identification

21 January 2018

1 reference

Keratins as the main component for the mechanical integrity of keratinocytes.

21 January 2018

1 reference

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

21 January 2018

1 reference

Calcium regulation of keratinocyte differentiation

21 January 2018

1 reference

A gene signature-based approach identifies mTOR as a regulator of p73.

21 January 2018

1 reference

Imaging individual mRNA molecules using multiple singly labeled probes

21 January 2018

1 reference

RNA imaging. Spatially resolved, highly multiplexed RNA profiling in single cells

21 January 2018

1 reference

The basal keratin network of stratified squamous epithelia: defining K15 function in the absence of K14.

21 January 2018

1 reference

The ubiquitin ligase CHIP/STUB1 targets mutant keratins for degradation.

21 January 2018

1 reference

Formation of a normal epidermis supported by increased stability of keratins 5 and 14 in keratin 10 null mice.

21 January 2018

1 reference

Disease model: heritable skin blistering

21 January 2018

1 reference

A phase 2 study of bortezomib in relapsed, refractory myeloma

21 January 2018

1 reference

Potent activity of carfilzomib, a novel, irreversible inhibitor of the ubiquitin-proteasome pathway, against preclinical models of multiple myeloma

21 January 2018

1 reference

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

21 January 2018

1 reference

Molecular heterogeneity of blistering disorders: the paradigm of epidermolysis bullosa

21 January 2018

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

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

1 reference