4.6 Article

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

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 Hematology

Expanded circulating hematopoietic stem/progenitor cells as novel cell source or the treatment of TCIRG1 osteopetrosis

Valentina Capo et al.

Summary: Allogeneic hematopoietic stem cell transplantation is the preferred treatment for autosomal recessive osteopetrosis caused by TCIRG1 gene defects. However, some patients are not eligible due to disease severity. Utilizing circulating CD34(+) cells for gene therapy shows promise in overcoming limitations of stem cell harvest in osteopetrotic patients, potentially shaping future gene-based treatments for skeletal diseases.

HAEMATOLOGICA (2021)

Article Cell & Tissue Engineering

Generation of gene-corrected functional osteoclasts from osteopetrotic induced pluripotent stem cells

Xiaojie Xian et al.

STEM CELL RESEARCH & THERAPY (2020)

Article Multidisciplinary Sciences

Molecular insights into the human CLC-7/Ostm1 transporter

Sensen Zhang et al.

SCIENCE ADVANCES (2020)

Article Endocrinology & Metabolism

A Case of Autosomal Dominant Osteopetrosis Type 2 with a CLCN7 Gene Mutation

Sol Kang et al.

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY (2019)

Review Endocrinology & Metabolism

One Disease, Many Genes: Implications for the Treatment of Osteopetroses

Sara Penna et al.

FRONTIERS IN ENDOCRINOLOGY (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)

Review Physiology

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

Thomas J. Jentsch et al.

PHYSIOLOGICAL REVIEWS (2018)

Review Endocrinology & Metabolism

Genetics of Osteopetrosis

Eleonora Palagano et al.

CURRENT OSTEOPOROSIS REPORTS (2018)

Article Multidisciplinary Sciences

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

Eunyong Park et al.

NATURE (2017)

Article Endocrinology & Metabolism

Osteopetroses, emphasizing potential approaches to treatment

Anna Teti et al.

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 Biochemistry & Molecular Biology

Severe Neurodegeneration with Impaired Autophagy Mechanism Triggered by Ostm1 Deficiency

Celine Heraud et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2014)

Review Endocrinology & Metabolism

Autosomal dominant osteopetrosis revisited: lessons from recent studies

Jens Bollerslev et al.

EUROPEAN JOURNAL OF ENDOCRINOLOGY (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 Multidisciplinary Sciences

An optical assay of the transport activity of ClC-7

Ilaria Zanardi et al.

SCIENTIFIC REPORTS (2013)

Review Biochemistry & Molecular Biology

V-ATPases in osteoclasts: Structure, function and potential inhibitors of bone resorption

A. Qin et al.

INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY (2012)

Review Cell Biology

A practical guide to evaluating colocalization in biological microscopy

Kenneth W. Dunn et al.

AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY (2011)

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 Endocrinology & Metabolism

Bone Development: Overview of Bone Cells and Signaling

Anna Teti

Current Osteoporosis Reports (2011)

Article Biochemistry & Molecular Biology

Sorting Motifs of the Endosomal/Lysosomal CLC Chloride Transporters

Tobias Stauber et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2010)

Article Biochemical Research Methods

Simultaneous intracellular chloride and pH measurements using a GFP-based sensor

Daniele Arosio et al.

NATURE METHODS (2010)

Article Multidisciplinary Sciences

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

Stefanie Weinert et al.

SCIENCE (2010)

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 Multidisciplinary Sciences

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

Austin R. Graves et al.

NATURE (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 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)

Article Physiology

Cysteine accessibility in ClC-0 supports conservation of the ClC intracellular vestibule

AM Engh et al.

JOURNAL OF GENERAL PHYSIOLOGY (2005)

Article Biochemistry & Molecular Biology

Molecular determinants of differential pore blocking of kidney CLC-K chloride channels

A Picollo et al.

EMBO REPORTS (2004)

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 Biochemistry & Molecular Biology

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

U Kornak et al.