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

No abstract is available for this paper.

• Publication year

  2010

• Venue

  Science

• Publication date

  2010-06-11

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1126/science.1188072PMID 20430974
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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  2004cited by this paper
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  2002cited by this paper
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  2001cited by this paper
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  2001cited by this paper
• Cloning and Functional Expression of Rat CLC-5, a Chloride Channel Related to Kidney Disease (*)

  1995cited by this paper
• Acidification of rat liver lysosomes: quantitation and comparison with endosomes.

  1993cited by this paper
• Acidification and ion permeabilities of highly purified rat liver endosomes.

  1989cited by this paper
• Electrogenic nature of lysosomal proton pump as revealed with a cyanine dye.

  1983cited by this paper

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