4.7 Review

Calcium- and Integrin-Binding Protein 2 (CIB2) in Physiology and Disease: Bright and Dark Sides

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Biochemistry & Molecular Biology

Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria

Adebolajo Adeyemo et al.

Summary: Although variant alleles of hundreds of genes are associated with sensorineural deafness in children, the genes and alleles involved remain largely unknown in the Sub-Saharan regions of Africa. In a study of families in or near Ibadan, Nigeria, a high level of genetic heterogeneity of hearing loss was discovered, with likely causal variants identified in genes reported to underlie deafness in other populations. The results suggest challenges for molecular genetic screening, counseling, and early intervention in this population.

EUROPEAN JOURNAL OF HUMAN GENETICS (2022)

Article Cell Biology

BAIAP2L2 is required for the maintenance of mechanotransducing stereocilia of cochlear hair cells

Keji Yan et al.

Summary: In this study, it was found that BAIAP2L2 is localized at the tips of inner ear hair cells' stereocilia, and its inactivation leads to degeneration of mechanotransducing stereocilia, resulting in hearing loss. BAIAP2L2 binds to components of the row 2 complex and MET complex, indicating its crucial role in maintaining stereocilia.

JOURNAL OF CELLULAR PHYSIOLOGY (2022)

Article Neurosciences

Putting the Pieces Together: the Hair Cell Transduction Complex

Jeffrey R. Holt et al.

Summary: This review discusses the identification of components in the mechanosensory transduction complex in hair cells and the ongoing research interest in this area. Emerging evidence has implicated multiple molecular components in the transduction machinery, but the exact mechanism of how these components interact to enable hearing and balance remains unclear. The review aims to provide a deeper understanding of these components and highlight both areas of consensus and controversy, as well as opportunities for future scientific discovery in this field.

JARO-JOURNAL OF THE ASSOCIATION FOR RESEARCH IN OTOLARYNGOLOGY (2021)

Article Biochemistry & Molecular Biology

Bringing the Ca2+ sensitivity of myristoylated recoverin into the physiological range

Valerio Marino et al.

Summary: This study investigates the mechanism by which the calcium-sensor protein recoverin regulates the activity of rhodopsin kinase in photoreceptors. The presence of both GRK1 and membrane is crucial for the physiological response to changes in intracellular calcium levels, driving the structural transitions of recoverin via a conformational selection mechanism. These findings may have implications for other sensory transduction systems involving protein complexes and biological membranes.

OPEN BIOLOGY (2021)

Article Multidisciplinary Sciences

Novel pathogenic mutations and further evidence for clinical relevance of genes and variants causing hearing impairment in Tunisian population

Amal Souissi et al.

Summary: This study investigated the genetic causes of non-GJB2 hearing impairment in Tunisian individuals using a customized enrichment panel, revealing several pathogenic variants and expanding the understanding of ARNSHI etiology.

JOURNAL OF ADVANCED RESEARCH (2021)

Article Neurosciences

CIB2 and CIB3 are auxiliary subunits of the mechanotransduction channel of hair cells

Xiaoping Liang et al.

Summary: CIB2 is a protein essential for mechanoelectrical transduction in cochlear hair cells, and can be substituted by CIB3 in cochlear hair cells. Through structural analysis, it was found that CIB2 and CIB3 are similar to KChIP proteins. They bind to TMC1/2 and regulate its localization and function, similar to how KChIP1 binds to Kv4 channels. This suggests that CIB2 and CIB3 are MET channel auxiliary subunits with striking similarity to Kv4 channel auxiliary subunits.

NEURON (2021)

Article Multidisciplinary Sciences

CIB2 regulates mTORC1 signaling and is essential for autophagy and visual function

Saumil Sethna et al.

Summary: The research demonstrates the role of CIB2 in regulating the Rheb-mTORC1 signaling axis and autophagy in AMD. Molecular deficits and pathologies related to AMD were observed in Cib2 mutant mice and dry-AMD patient samples.

NATURE COMMUNICATIONS (2021)

Article Medicine, Research & Experimental

Molecular Structure of the Hair Cell Mechanoelectrical Transduction Complex

Christopher L. Cunningham et al.

COLD SPRING HARBOR PERSPECTIVES IN MEDICINE (2019)

Editorial Material Neurosciences

Editorial: Neuronal Calcium Sensors in Health and Disease

Daniele Dell'Orco et al.

FRONTIERS IN MOLECULAR NEUROSCIENCE (2019)

Article Clinical Neurology

Genetics of Usher Syndrome: New Insights From a Meta-analysis

Guillaume Jouret et al.

OTOLOGY & NEUROTOLOGY (2019)

Article Medicine, Research & Experimental

Function and Dysfunction of TMC Channels in Inner Ear Hair Cells

David P. Corey et al.

COLD SPRING HARBOR PERSPECTIVES IN MEDICINE (2019)

Article Genetics & Heredity

Variants in CIB2 cause DFNB48 and not USH1J

K. T. Booth et al.

CLINICAL GENETICS (2018)

Article Otorhinolaryngology

Genetic heterogeneity of congenital hearing impairment in Algerians from the Ghardaia province

Sonia Talbi et al.

INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY (2018)

Article Neurosciences

Preferential Binding of Mg2+ Over Ca2+ to CIB2 Triggers an Allosteric Switch Impaired in Usher Syndrome Type 1J

Rosario Vallone et al.

FRONTIERS IN MOLECULAR NEUROSCIENCE (2018)

Review Otorhinolaryngology

Advances in genetic hearing loss: CIB2 gene

Agnieszka Jacoszek et al.

EUROPEAN ARCHIVES OF OTO-RHINO-LARYNGOLOGY (2017)

Article Multidisciplinary Sciences

Mechanisms of mTORC1 activation by RHEB and inhibition by PRAS40

Haijuan Yang et al.

NATURE (2017)

Article Multidisciplinary Sciences

A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction

Michael R. Bowl et al.

NATURE COMMUNICATIONS (2017)

Article Multidisciplinary Sciences

CIB2 interacts with TMC1 and TMC2 and is essential for mechanotransduction in auditory hair cells

Arnaud P. J. Giese et al.

NATURE COMMUNICATIONS (2017)

Article Neurosciences

Loss of CIB2 Causes Profound Hearing Loss and Abolishes Mechanoelectrical Transduction in Mice

Yanfei Wang et al.

FRONTIERS IN MOLECULAR NEUROSCIENCE (2017)

Article Medicine, Research & Experimental

CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival

Vincent Michel et al.

EMBO MOLECULAR MEDICINE (2017)

Article Biochemistry & Molecular Biology

Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells

Celia Zazo Seco et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2016)

Article Multidisciplinary Sciences

CIB1 and CIB2 are HIV-1 helper factors involved in viral entry

Ana Godinho-Santos et al.

SCIENTIFIC REPORTS (2016)

Article Genetics & Heredity

PDZD7 and Hearing Loss: More Than Just a Modifier

Kevin T. Booth et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2015)

Review Neurosciences

Protein and Signaling Networks in Vertebrate Photoreceptor Cells

Karl-Wilhelm Koch et al.

FRONTIERS IN MOLECULAR NEUROSCIENCE (2015)

Review Health Policy & Services

A systematic review of ovarian cancer and fear of recurrence

Melissa Ozga et al.

PALLIATIVE & SUPPORTIVE CARE (2015)

Review Biochemistry & Molecular Biology

Usher protein functions in hair cells and photoreceptors

Dominic Cosgrove et al.

INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY (2014)

Article Genetics & Heredity

Targeted next generation sequencing for molecular diagnosis of Usher syndrome

Maria J. Aparisi et al.

ORPHANET JOURNAL OF RARE DISEASES (2014)

Review Biochemistry & Molecular Biology

A Calcium-Relay Mechanism in Vertebrate Phototransduction

Karl-Wilhelm Koch et al.

ACS CHEMICAL NEUROSCIENCE (2013)

Review Cell Biology

Usher proteins in inner ear structure and function

Zubair M. Ahmed et al.

PHYSIOLOGICAL GENOMICS (2013)

Article Biochemistry & Molecular Biology

Biophysical and structural studies of the human calcium- and integrin-binding protein family: understanding their functional similarities and differences

Hao Huang et al.

BIOCHEMISTRY AND CELL BIOLOGY-BIOCHIMIE ET BIOLOGIE CELLULAIRE (2012)

Article Genetics & Heredity

A Discovery Resource of Rare Copy Number Variations in Individuals with Autism Spectrum Disorder

Aparna Prasad et al.

G3-GENES GENOMES GENETICS (2012)

Article Biochemistry & Molecular Biology

Insights into modulation of calcium signaling by magnesium in calmodulin, troponin C and related EF-hand proteins

Zenon Grabarek

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH (2011)

Article Biochemistry & Molecular Biology

Regulation of Stereocilia Length by Myosin XVa and Whirlin Depends on the Actin-Regulatory Protein Eps8

Uri Manor et al.

CURRENT BIOLOGY (2011)

Article Biochemistry & Molecular Biology

Eps8 Regulates Hair Bundle Length and Functional Maturation of Mammalian Auditory Hair Cells

Valeria Zampini et al.

PLOS BIOLOGY (2011)

Article Biochemistry & Molecular Biology

Translocation of Sphingosine Kinase 1 to the Plasma Membrane Is Mediated by Calcium- and Integrin-binding Protein 1

Kate E. Jarman et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2010)

Article Biochemistry & Molecular Biology

CIB1 is a regulator of pathological cardiac hypertrophy

Joerg Heineke et al.

NATURE MEDICINE (2010)

Article Biochemistry & Molecular Biology

Molecular characterization of the sheep CIB1 gene

Yan Yu et al.

MOLECULAR BIOLOGY REPORTS (2009)

Article Microbiology

Genome-Scale RNAi Screen for Host Factors Required for HIV Replication

Honglin Zhou et al.

CELL HOST & MICROBE (2008)

Article Biochemistry & Molecular Biology

Cib2 binds integrin α7Bβ1D and is reduced in laminin α2 chain-deficient muscular dystrophy

Mattias Haeger et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2008)

Article Biochemistry & Molecular Biology

Sweet taste receptor interacting protein CIB1 is a general inhibitor of InsP3-dependent Ca2+ release in vivo

Jan K. Hennings et al.

JOURNAL OF NEUROCHEMISTRY (2008)

Article Biochemistry & Molecular Biology

Domain stability and metal-induced folding of calcium- and integrin-binding protein 1

Aaron P. Yamniuk et al.

BIOCHEMISTRY (2007)

Article Cell Biology

CIB1 is an endogenous inhibitor of agonist-induced integrin αIIbβ3 activation

WP Yuan et al.

JOURNAL OF CELL BIOLOGY (2006)

Article Multidisciplinary Sciences

Scanning the human proteome for calmodulin-binding proteins

XC Shen et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)

Article Biochemistry & Molecular Biology

Structural and biochemical characterization of CIB1 delineates a new family of EF-hand-containing proteins

HR Gentry et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2005)

Article Biochemistry & Molecular Biology

Metal ion binding properties and conformational states of calcium- and integrin-binding protein

AP Yamniuk et al.

BIOCHEMISTRY (2004)

Article Oncology

Calcium binding sequences in calmyrin regulates interaction with presenilin-2

JS Zhu et al.

EXPERIMENTAL CELL RESEARCH (2004)

Review Biochemistry & Molecular Biology

Regulation of cellular magnesium

AMP Romani et al.

FRONTIERS IN BIOSCIENCE (2000)

Review Biochemistry & Molecular Biology

Integrins and actin filaments: Reciprocal regulation of cell adhesion and signaling

DA Calderwood et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2000)