Involvement of PLEKHM1 in osteoclastic vesicular transport and osteopetrosis in incisors absent rats and humans-Reference-Cited by-同舟云学术

Involvement of PLEKHM1 in osteoclastic vesicular transport and osteopetrosis in incisors absent rats and humans

Published:2007-04-02 Issue:4 Volume:117 Page:919-930
ISSN:0021-9738
Container-title:Journal of Clinical Investigation
language:en
Short-container-title:J. Clin. Invest.

Author:

Van Wesenbeeck Liesbeth,Odgren Paul R.,Coxon Fraser P.,Frattini Annalisa,Moens Pierre,Perdu Bram,MacKay Carole A.,Van Hul Els,Timmermans Jean-Pierre,Vanhoenacker Filip,Jacobs Ruben,Peruzzi Barbara,Teti Anna,Helfrich Miep H.,Rogers Michael J.,Villa Anna,Van Hul Wim

Publisher

American Society for Clinical Investigation

Subject

General Medicine

Reference69 articles.

1. A Clinical and Molecular Overview of the Human Osteopetroses

2. Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification.

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

4. Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis

5. Loss of the ClC-7 Chloride Channel Leads to Osteopetrosis in Mice and Man

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