Concepedia

The H Syndrome Is Caused by Mutations in the Nucleoside Transporter hENT3

Vered Molho‐Pessach, Dvorah Abeliovich, Ziad Agha, Abdulasalam Abu Libdeh, Valentina Broshtilova, Orly Elpeleg, Abraham Zlotogorski

The American Journal of Human Genetics · 2008 · 205 citations · 9 references

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Concepts

References

9

Functional Characterization of Novel Human and Mouse Equilibrative Nucleoside Transporters (hENT3 and mENT3) Located in Intracellular Membranes

Stephen A. Baldwin, Sylvia Y.M. Yao, Ralph J. Hyde et al. · Journal of Biological Chemistry · 2005 · 322 citations · Full text

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The ENT family of eukaryote nucleoside and nucleobase transporters: recent advances in the investigation of structure/function relationships and the identification of novel isoforms

Ralph J. Hyde, Carol E. Cass, James D. Young et al. · Molecular Membrane Biology · 2001 · 209 citations · Full text

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Clinical aspects of mitochondrial disorders

Arnold Münnich, Pierre Rustin, Agnès Rötig et al. · Journal of Inherited Metabolic Disease · 1992 · 154 citations

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Mitochondrial Expression of the Human Equilibrative Nucleoside Transporter 1 (hENT1) Results in Enhanced Mitochondrial Toxicity of Antiviral Drugs

Yurong Lai, Chung‐Ming Tse, Jashvant D. Unadkat · Journal of Biological Chemistry · 2004 · 149 citations · Full text

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The H syndrome: A genodermatosis characterized by indurated, hyperpigmented, and hypertrichotic skin with systemic manifestations

Vered Molho‐Pessach, Ziad Agha, Suhail Aamar et al. · Journal of the American Academy of Dermatology · 2008 · 138 citations

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