4.6 Article

The Role of the Lysosomal Cl-/H+ Antiporter ClC-7 in Osteopetrosis and Neurodegeneration

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 Endocrinology & Metabolism

Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived From Structural and Functional Analysis of 14 ClC-7 Mutants

Eleonora Di Zanni et al.

Summary: ClC-7 is a chloride-proton antiporter that plays a critical role in various cellular functions, particularly in lysosomes and osteoclasts. Functional evaluation of ClC-7 mutations can provide insights into their pathogenicity, although challenges exist due to the protein's cellular localization. This study suggests a correlation between the lack of ClC-7/Ostm1 in lysosomes and severe neurodegeneration, shedding light on potential mechanisms underlying certain diseases.

JOURNAL OF BONE AND MINERAL RESEARCH (2021)

Article Physiology

Large transient capacitive currents in wild-type lysosomal Cl-/H+ antiporter ClC-7 and residual transport activity in the proton glutamate mutant E312A

Michael Pusch et al.

Summary: Research on ClC-7 transporter reveals its dependence on external pH and internal Cl-, while the E312A mutation of the proton glutamate reduces but does not abolish stationary transport currents, potentially explaining the intermediate phenotype observed in the E312A mouse line.

JOURNAL OF GENERAL PHYSIOLOGY (2021)

Article Neurosciences

West Syndrome Caused By a Chloride/Proton Exchange-Uncoupling CLCN6 Mutation Related to Autophagic-Lysosomal Dysfunction

Hailan He et al.

Summary: Vesicular chloride/proton exchangers of the CLC family are crucial for the endosomal-lysosomal pathway, and dysfunction may lead to severe disorders. A study reported a novel variant of CLCN6 associated with West syndrome, providing clinical and functional evidence for the link. The research shed light on the involvement of autophagic-lysosomal dysfunction in the pathogenesis of West syndrome.

MOLECULAR NEUROBIOLOGY (2021)

Review Cell Biology

Neurodegeneration Upon Dysfunction of Endosomal/Lysosomal CLC Chloride Transporters

Shroddha Bose et al.

Summary: This article discusses the role of CLC proteins in organellar ion homeostasis and neurodegenerative disorders, as well as the severe diseases associated with their abnormalities.

FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY (2021)

Article Endocrinology & Metabolism

Efficient generation of osteoclasts from human induced pluripotent stem cells and functional investigations of lethal CLCN7-related osteopetrosis

Uta Roessler et al.

Summary: Human induced pluripotent stem cells (hiPSCs) have great potential for modeling human diseases and developing innovative therapeutic approaches. A novel differentiation method for forming functional osteoclasts from hiPSCs was reported, showing continuous production of monocyte-like cells for up to 9 weeks and generating sufficient material for multiple osteoclast differentiations. The study demonstrated that osteoclasts differentiated from hiPSCs could be used as a disease model for osteopetrosis and potentially other osteoclast-related diseases.

JOURNAL OF BONE AND MINERAL RESEARCH (2021)

Article Endocrinology & Metabolism

Novel insights into the clinical and molecular spectrum of congenital disorders of autophagy

Julian Teinert et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2020)

Article Multidisciplinary Sciences

Molecular insights into the human CLC-7/Ostm1 transporter

Sensen Zhang et al.

SCIENCE ADVANCES (2020)

Article Genetics & Heredity

A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl-/H+-Exchanger, Causes Early-Onset Neurodegeneration

Maya M. Polovitskaya et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2020)

Review Biochemistry & Molecular Biology

Autophagy: A Lysosome-Dependent Process with Implications in Cellular Redox Homeostasis and Human Disease

Stefan W. Ryter et al.

ANTIOXIDANTS & REDOX SIGNALING (2019)

Review Biochemistry & Molecular Biology

Lysosomal Ion Channels as Decoders of Cellular Signals

Ping Li et al.

TRENDS IN BIOCHEMICAL SCIENCES (2019)

Article Biochemistry & Molecular Biology

Structure of the human ClC-1 chloride channel

Kaituo Wang et al.

PLOS BIOLOGY (2019)

Article Genetics & Heredity

Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification

Elena-Raluca Nicoli et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2019)

Article Endocrinology & Metabolism

Ostm1 Bifunctional Roles in Osteoclast Maturation: Insights From a Mouse Model Mimicking a Human OSTM1 Mutation

Monica Pata et al.

JOURNAL OF BONE AND MINERAL RESEARCH (2018)

Review Physiology

CLC CHLORIDE CHANNELS AND TRANSPORTERS: STRUCTURE, FUNCTION, PHYSIOLOGY, AND DISEASE

Thomas J. Jentsch et al.

PHYSIOLOGICAL REVIEWS (2018)

Article Multidisciplinary Sciences

Structure of a CLC chloride ion channel by cryo-electron microscopy

Eunyong Park et al.

NATURE (2017)

Article Genetics & Heredity

Novel CLCN7 compound heterozygous mutations in intermediate autosomal recessive osteopetrosis

Nana Okamoto et al.

HUMAN GENOME VARIATION (2017)

Article Endocrinology & Metabolism

C1cn7F318L/+ as a new mouse model of Albers-Schonberg disease

J. Caetano-Lopes et al.

Article Endocrinology & Metabolism

Osteopetroses, emphasizing potential approaches to treatment

Anna Teti et al.

Article Endocrinology & Metabolism

Two novel mutations of CLCN7 gene in Chinese families with autosomal dominant osteopetrosis (type II)

Hui Zheng et al.

JOURNAL OF BONE AND MINERAL METABOLISM (2016)

Article Genetics & Heredity

Autosomal Dominant Osteopetrosis Associated with Renal Tubular Acidosis is due to a CLCN7 Mutation

Sian E. Piret et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2016)

Article Endocrinology & Metabolism

A mathematical model of osteoclast acidification during bone resorption

Frank V. Marcoline et al.

Review Physiology

Lysosomal Physiology

Haoxing Xu et al.

ANNUAL REVIEW OF PHYSIOLOGY, VOL 77 (2015)

Article Biochemistry & Molecular Biology

Transport activity and presence of ClC-7/Ostm1 complex account for different cellular functions

Stefanie Weinert et al.

EMBO REPORTS (2014)

Article Endocrinology & Metabolism

CLCN7 and TCIRG1 Mutations Differentially Affect Bone Matrix Mineralization in Osteopetrotic Individuals

Florian Barvencik et al.

JOURNAL OF BONE AND MINERAL RESEARCH (2014)

Article Multidisciplinary Sciences

Water access points and hydration pathways in CLC H+/Cl- transporters

Wei Han et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2014)

Article Pediatrics

Identification of two novel mutations on CLCN7 gene in a patient with malignant ostopetrosis

Giuseppe Bonapace et al.

ITALIAN JOURNAL OF PEDIATRICS (2014)

Article Biochemistry & Molecular Biology

ClC-3 Is an Intracellular Chloride/Proton Exchanger with Large Voltage-Dependent Nonlinear Capacitance

Raul E. Guzman et al.

ACS CHEMICAL NEUROSCIENCE (2013)

Article Biochemistry & Molecular Biology

Common Gating of Both CLC Transporter Subunits Underlies Voltage-dependent Activation of the 2Cl-/1H+ Exchanger ClC-7/Ostm1

Carmen F. Ludwig et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2013)

Article Physiology

A model of lysosomal pH regulation

Yoichi Ishida et al.

JOURNAL OF GENERAL PHYSIOLOGY (2013)

Article Neurosciences

A single point mutation reveals gating of the human ClC-5 Cl-/H+ antiporter

Silvia De Stefano et al.

JOURNAL OF PHYSIOLOGY-LONDON (2013)

Review Endocrinology & Metabolism

Osteopetrosis: genetics, treatment and new insights into osteoclast function

Cristina Sobacchi et al.

NATURE REVIEWS ENDOCRINOLOGY (2013)

Article Biophysics

On the Mechanism of Gating Charge Movement of ClC-5, a Human Cl-/H+ Antiporter

Giovanni Zifarelli et al.

BIOPHYSICAL JOURNAL (2012)

Article Dentistry, Oral Surgery & Medicine

Report of two Chinese patients suffering from CLCN7-related osteopetrosis and root dysplasia

Yang Xue et al.

JOURNAL OF CRANIO-MAXILLOFACIAL SURGERY (2012)

Article Multidisciplinary Sciences

Molecular mechanism of proton transport in CLC Cl-/H+ exchange transporters

Liang Feng et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2012)

Article Biochemistry & Molecular Biology

Intracellular Proton Access in a Cl-/H+ Antiporter

Hyun-Ho Lim et al.

PLOS BIOLOGY (2012)

Article Physiology

Cell Biology and Physiology of CLC Chloride Channels and Transporters

Tobias Stauber et al.

COMPREHENSIVE PHYSIOLOGY (2012)

Article Biochemistry & Molecular Biology

CIC-7 is a slowly voltage-gated 2CI-/1H+-exchanger and requires Ostm1 for transport activity

Lilia Leisle et al.

EMBO JOURNAL (2011)

Article Cell Biology

Degradation of Alzheimer's amyloid fibrils by microglia requires delivery of ClC-7 to lysosomes

Amitabha Majumdar et al.

MOLECULAR BIOLOGY OF THE CELL (2011)

Editorial Material Cell Biology

A role for chloride transport in lysosomal protein degradation

Lena Wartosch et al.

AUTOPHAGY (2010)

Article Developmental Biology

Severe developmental bone phenotype in ClC-7 deficient mice

A. V. Neutzsky-Wulff et al.

DEVELOPMENTAL BIOLOGY (2010)

Article Biochemistry & Molecular Biology

Voltage-dependent charge movement associated with activation of the CLC-5 2Cl-/1H+ exchanger

Andrew J. Smith et al.

FASEB JOURNAL (2010)

Review Biochemistry & Molecular Biology

CLC transport proteins in plants

G. Zifarelli et al.

FEBS LETTERS (2010)

Article Biochemistry & Molecular Biology

Sorting Motifs of the Endosomal/Lysosomal CLC Chloride Transporters

Tobias Stauber et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2010)

Article Biochemistry & Molecular Biology

The Late Endosomal ClC-6 Mediates Proton/Chloride Countertransport in Heterologous Plasma Membrane Expression

Ioana Neagoe et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2010)

Article Cell Biology

A cation counterflux supports lysosomal acidification

Benjamin E. Steinberg et al.

JOURNAL OF CELL BIOLOGY (2010)

Article Clinical Neurology

Distinct Neuropathologic Phenotypes After Disrupting the Chloride Transport Proteins ClC-6 or ClC-7/Ostm1

Sarah N. R. Pressey et al.

JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY (2010)

Article Multidisciplinary Sciences

Lysosomal Pathology and Osteopetrosis upon Loss of H+-Driven Lysosomal Cl- Accumulation

Stefanie Weinert et al.

SCIENCE (2010)

Article Hematology

A single-center experience in 20 patients with infantile malignant osteopetrosis

Evelina Mazzolari et al.

AMERICAN JOURNAL OF HEMATOLOGY (2009)

Article Biophysics

Proton Transport Pathway in the CIC Cl-/H+ Antiporter

Dong Wang et al.

BIOPHYSICAL JOURNAL (2009)

Article Biochemistry & Molecular Biology

Conversion of the 2 Cl-/1 H+ antiporter ClC-5 in a NO3-/H+ antiporter by a single point mutation

Giovanni Zifarelli et al.

EMBO JOURNAL (2009)

Article Pediatrics

A novel CLCN7 mutation resulting in a most severe form of autosomal recessive osteopetrosis

Nesrin Besbas et al.

EUROPEAN JOURNAL OF PEDIATRICS (2009)

Article Biochemistry & Molecular Biology

Lysosomal degradation of endocytosed proteins depends on the chloride transport protein ClC-7

Lena Wartosch et al.

FASEB JOURNAL (2009)

Article Biochemistry & Molecular Biology

Brain lipid composition in grey-lethal mutant mouse characterized by severe malignant osteopetrosis

Alessandro Prinetti et al.

GLYCOCONJUGATE JOURNAL (2009)

Article Biochemistry & Molecular Biology

Residues Important for Nitrate/Proton Coupling in Plant and Mammalian CLC Transporters

Eun-Yeong Bergsdorf et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2009)

Article Physiology

Channel-like slippage modes in the human anion/proton exchanger ClC-4

Alexi K. Alekov et al.

JOURNAL OF GENERAL PHYSIOLOGY (2009)

Review Cell Biology

Ion channels versus ion pumps: the principal difference, in principle

David C. Gadsby

NATURE REVIEWS MOLECULAR CELL BIOLOGY (2009)

Article Biochemistry & Molecular Biology

Basis of substrate binding and conservation of selectivity in the CLC family of channels and transporters

Alessandra Picollo et al.

NATURE STRUCTURAL & MOLECULAR BIOLOGY (2009)

Article Multidisciplinary Sciences

The Cl-/H+ antiporter ClC-7 is the primary chloride permeation pathway in lysosomes

Austin R. Graves et al.

NATURE (2008)

Article Biochemistry & Molecular Biology

Determinants of anion-proton coupling in mammalian endosomal CLC proteins

Anselm A. Zdebik et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2008)

Article Endocrinology & Metabolism

Autosomal dominant osteopetrosis: Clinical severity and natural history of 94 subjects with a chloride channel 7 gene mutation

Steven G. Waguespack et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2007)

Article Biochemistry & Molecular Biology

Nucleotide recognition by the cytoplasmic domain of the human chloride transporter ClC-5

Sebastian Meyer et al.

NATURE STRUCTURAL & MOLECULAR BIOLOGY (2007)

Article Biochemistry & Molecular Biology

Large movement in the C terminus of CLC-0 chloride channel during slow gating

Ekaterina A. Bykova et al.

NATURE STRUCTURAL & MOLECULAR BIOLOGY (2006)

Article Multidisciplinary Sciences

Lysosomal storage disease upon disruption of the neuronal chloride transport protein CIC-6

Mallorie Poet et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2006)

Article Endocrinology & Metabolism

Mutations in OSTM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvement

Alessandra Pangrazio et al.

JOURNAL OF BONE AND MINERAL RESEARCH (2006)

Review Multidisciplinary Sciences

CIC chloride channels viewed through a transporter lens

C Miller

NATURE (2006)

Article Physiology

Separate ion pathways in a Cl+/H+ exchanger

A Accardi et al.

JOURNAL OF GENERAL PHYSIOLOGY (2005)

Review Endocrinology & Metabolism

A clinical and molecular overview of the human osteopetroses

W Balemans et al.

CALCIFIED TISSUE INTERNATIONAL (2005)

Article Biochemistry & Molecular Biology

Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration

D Kasper et al.

EMBO JOURNAL (2005)

Letter Genetics & Heredity

Intrafamilial phenotypic variability of osteopetrosis due to Chloride Channel 7 (CLCN7) mutations

AB Campos-Xavier et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)

Article Endocrinology & Metabolism

Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis

A Frattini et al.

JOURNAL OF BONE AND MINERAL RESEARCH (2003)

Article Endocrinology & Metabolism

Chloride channel 7 (ClCN7) gene mutations and autosomal dominant osteopetrosis, type II

SG Waguespack et al.

JOURNAL OF BONE AND MINERAL RESEARCH (2003)

Article Multidisciplinary Sciences

Gating the selectivity filter in ClC chloride channels

R Dutzler et al.

SCIENCE (2003)

Review Clinical Neurology

Neurological aspects of osteopetrosis

CG Steward

NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY (2003)

Article Biochemistry & Molecular Biology

Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human

N Chalhoub et al.

NATURE MEDICINE (2003)

Article Multidisciplinary Sciences

Activated microglia in cortex of mouse models of mucopolysaccharidoses I and IIIB

K Ohmi et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2003)

Article Genetics & Heredity

Chloride channel 7 (CLCN7) gene mutations in intermediate autosomal recessive osteopetrosis

AB Campos-Xavier et al.

HUMAN GENETICS (2003)

Article Biochemistry & Molecular Biology

Loss of the CIC-7 chloride channel leads to osteopetrosis in mice and man

U Kornak et al.

Article Endocrinology & Metabolism

Further evidence for genetic heterogeneity within type II autosomal dominant osteopetrosis

OD Bénichou et al.

JOURNAL OF BONE AND MINERAL RESEARCH (2000)

Article Multidisciplinary Sciences

Microglial activation precedes acute neurodegeneration in Sandhoff disease and is suppressed by bone marrow transplantation

R Wada et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2000)

Article Biochemistry & Molecular Biology

Mutations in the a3 subunit of the vacuolar H+-ATPase cause infantile malignant osteopetrosis

U Kornak et al.

HUMAN MOLECULAR GENETICS (2000)