Role of saposin C and D in auditory and vestibular function-Reference-Cited by-同舟云学术

Role of saposin C and D in auditory and vestibular function

Published:2015-07-21 Issue:2 Volume:126 Page:452-459
ISSN:0023-852X
Container-title:The Laryngoscope
language:en
Short-container-title:The Laryngoscope

Author:

Lustig Lawrence R.¹,Alemi Sean²,Sun Ying³,Grabowski Gregory³,Akil Omar²

Affiliation:

1. Department of Otolaryngology-Head & Neck Surgery; Columbia University Medical Center; New York New York

2. Department of Otolaryngology-Head & Neck Surgery; University of California; San Francisco, San Francisco California

3. Department of Human Genetics; University of Cincinnati Children's Hospital Medical Center; Cincinnati Ohio U.S.A

Publisher

Wiley

Subject

Otorhinolaryngology

Reference37 articles.

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2. Sulfatide activator protein;Holtschmidt;Alternative splicing that generates three mRNAs and a newly found mutation responsible for a clinical disease. J Biol Chem,1991

3. A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation;Hulkova;Hum Mol Genet,2001

4. Additional biochemical findings in a patient and fetal sibling with a genetic defect in the sphingolipid activator protein (SAP) precursor, prosaposin. Evidence for a deficiency in SAP-1 and for a normal lysosomal neuraminidase;Paton;Biochem J,1992

5. Mutational analysis in a patient with a variant form of Gaucher disease caused by SAP-2 deficiency;Rafi;Somat Cell Mol Genet,1993

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