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

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

(2020) Xiaojie Xian et al.   Stem Cell Research & Therapy

Cryo-EM structure of the lysosomal chloride-proton exchanger CLC-7 in complex with OSTM1

(2020) Marina Schrecker et al.   eLife

Molecular insights into the human CLC-7/Ostm1 transporter

(2020) Sensen Zhang et al.   Science Advances

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

(2019) Sara Penna et al.   Frontiers in Endocrinology

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

(2019) Sol Kang et al.   Journal of Clinical Research in Pediatric Endocrinology

Structure of the human ClC-1 chloride channel

(2019) Kaituo Wang et al.   PLOS BIOLOGY

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

(2019) Elena-Raluca Nicoli et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Hematopoietic Stem Cell-Targeted Neonatal Gene Therapy with a Clinically Applicable Lentiviral Vector Corrects Osteopetrosis in oc/oc Mice

(2019) Henrik Löfvall et al.   HUMAN GENE THERAPY

RNA interference therapy for autosomal dominant osteopetrosis type 2. Towards the preclinical development

(2018) Antonio Maurizi et al.   BONE

CLC Chloride Channels and Transporters: Structure, Function, Physiology, and Disease

(2018) Thomas J. Jentsch et al.   PHYSIOLOGICAL REVIEWS

Structure of the CLC-1 chloride channel from Homo sapiens

(2018) Eunyong Park et al.   eLife

Genetics of Osteopetrosis

(2018) Eleonora Palagano et al.   Current Osteoporosis Reports

Novel mutations of CLCN7 cause autosomal dominant osteopetrosis type II (ADOII) and intermediate autosomal recessive osteopetrosis (ARO) in seven Chinese families

(2017) Xiaoya Zhang et al.   POSTGRADUATE MEDICINE

A novel mutation and a known mutation in the CLCN7 gene associated with relatively stable infantile malignant osteopetrosis in a Chinese patient

(2016) Binghui Zeng et al.   GENE

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

(2016) Eunyong Park et al.   NATURE

Pharmacological Chaperone Therapy: Preclinical Development, Clinical Translation, and Prospects for the Treatment of Lysosomal Storage Disorders

(2015) Giancarlo Parenti et al.   MOLECULAR THERAPY

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

(2014) S. Weinert et al.   EMBO REPORTS

Severe Neurodegeneration with Impaired Autophagy Mechanism Triggered by Ostm1 Deficiency

(2014) Céline Héraud et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A missense mutation accelerating the gating of the lysosomal Cl-/H+-exchanger ClC-7/Ostm1 causes osteopetrosis with gingival hamartomas in cattle

(2013) A. Sartelet et al.   Disease Models & Mechanisms

Genetics in Endocrinology: Autosomal dominant osteopetrosis revisited: lessons from recent studies

(2013) Jens Bollerslev et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Identification of two novel CLCN7 gene mutations in three Chinese families with autosomal dominant osteopetrosis type II

(2013) Hui Zheng et al.   JOINT BONE SPINE

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

(2013) Carmen F. Ludwig et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

An optical assay of the transport activity of ClC-7

(2013) Ilaria Zanardi et al.   Scientific Reports

A robust model for read count data in exome sequencing experiments and implications for copy number variant calling

(2012) Vincent Plagnol et al.   BIOINFORMATICS

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

(2012) A. Qin et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

A practical guide to evaluating colocalization in biological microscopy

(2011) Kenneth W. Dunn et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

ClC-7 is a slowly voltage-gated 2Cl−/1H+-exchanger and requires Ostm1 for transport activity

(2011) Lilia Leisle et al.   EMBO JOURNAL

Bone Development: Overview of Bone Cells and Signaling

(2011) Anna Teti   Current Osteoporosis Reports

Sorting Motifs of the Endosomal/Lysosomal CLC Chloride Transporters

(2010) Tobias Stauber et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

(2010) Daniele Arosio et al.   NATURE METHODS

The G215R Mutation in the Cl−/H+-Antiporter ClC-7 Found in ADO II Osteopetrosis Does Not Abolish Function but Causes a Severe Trafficking Defect

(2010) Patrick Schulz et al.   PLoS One

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

(2010) S. Weinert et al.   SCIENCE

Structure of a Eukaryotic CLC Transporter Defines an Intermediate State in the Transport Cycle

(2010) Liang Feng et al.   SCIENCE

Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations

(2009) Alessandra Pangrazio et al.   HUMAN MUTATION

Use of the viral 2A peptide for bicistronic expression in transgenic mice

(2008) Georgios Trichas et al.   BMC BIOLOGY

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

(2008) Alessandro Prinetti et al.   GLYCOCONJUGATE JOURNAL

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

(2008) Austin R. Graves et al.   NATURE