Characterization of a Relatively Malignant Form of Osteopetrosis Caused by a Novel Mutation in thePLEKHM1Gene

Nosology and classification of genetic skeletal disorders: 2015 revision

(2015) Luisa Bonafe et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

PLEKHM1 Regulates Salmonella-Containing Vacuole Biogenesis and Infection

(2015) David G. McEwan et al.   Cell Host & Microbe

PLEKHM1: A Multiprotein Adaptor for the Endolysosomal System

(2015) Moran Rawet-Slobodkin et al.   MOLECULAR CELL

PLEKHM1 Regulates Autophagosome-Lysosome Fusion through HOPS Complex and LC3/GABARAP Proteins

(2015) David G. McEwan et al.   MOLECULAR CELL

Skeletal dysplasias with increased bone density: Evolution of molecular pathogenesis in the last century

(2013) Shagun Aggarwal   GENE

Osteopetrosis: genetics, treatment and new insights into osteoclast function

(2013) Cristina Sobacchi et al.   Nature Reviews Endocrinology

Identification and Functional Characterization of a Large Deletion of theCYP11B1Gene Causing an 11�-Hydroxylase Deficiency in a Chinese Pedigree

(2012) Chao Xu et al.   Hormone Research in Paediatrics

AnSNX10mutation causes malignant osteopetrosis of infancy

(2012) Memet Aker et al.   JOURNAL OF MEDICAL GENETICS

Nosology and classification of genetic skeletal disorders: 2010 revision

(2011) Matthew L. Warman et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Rubicon and PLEKHM1 Negatively Regulate the Endocytic/Autophagic Pathway via a Novel Rab7-binding Domain

(2010) Keisuke Tabata et al.   MOLECULAR BIOLOGY OF THE CELL

Osteoclast heterogeneity:

(2009) Vincent Everts et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Prospects for Gene Therapy of Osteopetrosis

(2009) Maria Askmyr et al.   CURRENT GENE THERAPY

Distinct regulation of autophagic activity by Atg14L and Rubicon associated with Beclin 1–phosphatidylinositol-3-kinase complex

(2009) Yun Zhong et al.   NATURE CELL BIOLOGY

Two Beclin 1-binding proteins, Atg14L and Rubicon, reciprocally regulate autophagy at different stages

(2009) Kohichi Matsunaga et al.   NATURE CELL BIOLOGY

Rab GTPases as coordinators of vesicle traffic

(2009) Harald Stenmark   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Osteopetrosis

(2009) Zornitza Stark et al.   Orphanet Journal of Rare Diseases

The Clinical Spectrum of Leukocyte Adhesion Deficiency (LAD) III due to Defective CalDAG-GEF1

(2008) Sara S. Kilic et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Genetics, pathogenesis and complications of osteopetrosis

(2007) Andrea Del Fattore et al.   BONE