Kelch proteins: emerging roles in skeletal muscle development and diseases

Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy

(2013) Gianina Ravenscroft et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of α-Dystroglycan

(2013) Elizabeth Stevens et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan

(2013) Keren J. Carss et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy

(2013) Vandana A. Gupta et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene

(2013) Maria J. Melià et al.   BRAIN

CUL3 and protein kinases: Insights from PLK1/KLHL22 interaction

(2013) Thibaud Metzger et al.   CELL CYCLE

A Cul-3-BTB ubiquitylation pathway regulates junctional levels and asymmetry of core planar polarity proteins

(2013) H. Strutt et al.   DEVELOPMENT

Kbtbd5 is regulated by MyoD and restricted to the myogenic lineage

(2013) Kathy M. Bowlin et al.   DIFFERENTIATION

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

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

Cellular and molecular mechanisms underlying muscular dystrophy

(2013) Fedik Rahimov et al.   JOURNAL OF CELL BIOLOGY

Muscular dystrophies

(2013) Eugenio Mercuri et al.   LANCET

Approach to the diagnosis of congenital myopathies

(2013) Kathryn N. North et al.   NEUROMUSCULAR DISORDERS

Next-Generation Sequencing Identifies Transportin 3 as the Causative Gene for LGMD1F

(2013) Annalaura Torella et al.   PLoS One

Kelch-like 3 and Cullin 3 regulate electrolyte homeostasis via ubiquitination and degradation of WNK4

(2013) S. Shibata et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Science Signaling Podcast: 27 August 2013

(2013) P. Yang et al.   Science Signaling

The novel BTB-kelch protein, KBTBD8, is located in the Golgi apparatus and translocates to the spindle apparatus during mitosis

(2013) Sandra Lührig et al.   Cell Division

Impaired KLHL3-Mediated Ubiquitination of WNK4 Causes Human Hypertension

(2013) Mai Wakabayashi et al.   Cell Reports

Mechanisms for maintaining muscle

(2013) Ambar Banerjee et al.   Current Opinion in Supportive and Palliative Care

A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome

(2013) Gaëlle Blandin et al.   Skeletal Muscle

Exome Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations as a Cause of Walker-Warburg Syndrome

(2012) M. Chiara Manzini et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Dominant Mutation of CCDC78 in a Unique Congenital Myopathy with Prominent Internal Nuclei and Atypical Cores

(2012) Karen Majczenko et al.   AMERICAN JOURNAL OF HUMAN GENETICS

KBTBD13 interacts with Cullin 3 to form a functional ubiquitin ligase

(2012) Nyamkhishig Sambuughin et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Disruption of Nrf2/ARE signaling impairs antioxidant mechanisms and promotes cell degradation pathways in aged skeletal muscle

(2012) Corey J. Miller et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Roles of Keap1-Nrf2 System in Upper Aerodigestive Tract Carcinogenesis

(2012) A. Ohkoshi et al.   Cancer Prevention Research

Regulation and physiological roles of the calpain system in muscular disorders

(2012) H. Sorimachi et al.   CARDIOVASCULAR RESEARCH

Congenital Myopathies: An Update

(2012) Jessica R. Nance et al.   Current Neurology and Neuroscience Reports

Cellular and molecular mechanisms of muscle atrophy

(2012) P. Bonaldo et al.   Disease Models & Mechanisms

Sarcosin (Krp1) in skeletal muscle differentiation: gene expression profiling and knockdown experiments

(2012) Leonie Du Puy et al.   INTERNATIONAL JOURNAL OF DEVELOPMENTAL BIOLOGY

The Kelch Repeat Protein KLHDC10 Regulates Oxidative Stress-Induced ASK1 Activation by Suppressing PP5

(2012) Yusuke Sekine et al.   MOLECULAR CELL

Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities

(2012) Lynn M. Boyden et al.   NATURE

KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron

(2012) Hélène Louis-Dit-Picard et al.   NATURE GENETICS

Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores

(2012) Steven E. Boyden et al.   NEUROGENETICS

BTB-Kelch protein Krp1 regulates proliferation and differentiation of myoblasts

(2011) Camille W. Paxton et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

A Cullin3-KLHL20 Ubiquitin Ligase-Dependent Pathway Targets PML to Potentiate HIF-1 Signaling and Prostate Cancer Progression

(2011) Wei-Chien Yuan et al.   CANCER CELL

KEAP1 gene mutations and NRF2 activation are common in pulmonary papillary adenocarcinoma

(2011) Qing Kay Li et al.   JOURNAL OF HUMAN GENETICS

Novel human BTB/POZ domain-containing zinc finger protein ZBTB1 inhibits transcriptional activities of CRE

(2011) Qingmei Liu et al.   MOLECULAR AND CELLULAR BIOCHEMISTRY

Interaction of an intracellular pentraxin with a BTB-Kelch protein is associated with ubiquitylation, aggregation and neuronal apoptosis

(2011) LeinWeih Andrew Tseng et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Sensory-motor deficits and neurofilament disorganization in gigaxonin-null mice

(2011) Thibault Ganay et al.   Molecular Neurodegeneration

Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia

(2011) Xose S. Puente et al.   NATURE

Transcriptional mechanisms regulating skeletal muscle differentiation, growth and homeostasis

(2011) Thomas Braun et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Distal myopathies – New genetic entities expand diagnostic challenge

(2011) Bjarne Udd   NEUROMUSCULAR DISORDERS

Congenital Muscular Dystrophies: A Brief Review

(2011) Enrico Bertini et al.   Seminars in Pediatric Neurology

Nemaline Myopathies

(2011) Carina Wallgren-Pettersson et al.   Seminars in Pediatric Neurology

The cullin protein family

(2011) Antonio Sarikas et al.   GENOME BIOLOGY

Muscular dystrophies: an update on pathology and diagnosis

(2010) Caroline A. Sewry   ACTA NEUROPATHOLOGICA

Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores

(2010) Nyamkhishig Sambuughin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy

(2010) Sebahattin Cirak et al.   BRAIN

The Cullin 3 substrate adaptor KLHL20 mediates DAPK ubiquitination to control interferon responses

(2010) Yu-Ru Lee et al.   EMBO JOURNAL

Autophagy in skeletal muscle

(2010) Marco Sandri   FEBS LETTERS

DrosophilaKelch functions with Cullin-3 to organize the ring canal actin cytoskeleton

(2010) Andrew M. Hudson et al.   JOURNAL OF CELL BIOLOGY

Many routes to the same destination: lessons from skeletal muscle development

(2010) Gi Fay Mok et al.   REPRODUCTION

Mutations in a BTB-Kelch Protein, KLHL7, Cause Autosomal-Dominant Retinitis Pigmentosa

(2009) James S. Friedman et al.   AMERICAN JOURNAL OF HUMAN GENETICS

RING Domain E3 Ubiquitin Ligases

(2009) Raymond J. Deshaies et al.   Annual Review of Biochemistry

Diversification of the cullin family

(2009) Ignacio Marín   BMC EVOLUTIONARY BIOLOGY

Pathological defects in congenital myopathies

(2009) Caroline A. Sewry   JOURNAL OF MUSCLE RESEARCH AND CELL MOTILITY

Klhl31 is associated with skeletal myogenesis and its expression is regulated by myogenic signals and Myf-5

(2009) Alaa Abou-Elhamd et al.   MECHANISMS OF DEVELOPMENT

Physiological functions of the HECT family of ubiquitin ligases

(2009) Daniela Rotin et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Mutations in a gene encoding a midbody kelch protein in familial and sporadic classical Hodgkin lymphoma lead to binucleated cells

(2009) S. J. Salipante et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The involvement of the ubiquitin proteasome system in human skeletal muscle remodelling and atrophy

(2008) A.J. Murton et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

BTB Protein KLHL12 Targets the Dopamine D4 Receptor for Ubiquitination by a Cul3-based E3 Ligase

(2008) Pieter Rondou et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Novel role of the muskelin–RanBP9 complex as a nucleocytoplasmic mediator of cell morphology regulation

(2008) Manojkumar Valiyaveettil et al.   JOURNAL OF CELL BIOLOGY

NAC1, a POZ/BTB protein that functions as a corepressor

(2008) Laxminarayana Korutla et al.   NEUROCHEMISTRY INTERNATIONAL

Krp1 (Sarcosin) promotes lateral fusion of myofibril assembly intermediates in cultured mouse cardiomyocytes

(2007) Cynthia C. Greenberg et al.   EXPERIMENTAL CELL RESEARCH