Hawkins, Arie <br/><br/>
A non-BRICHOS SFTPC mutant (SP-CI73T) linked to interstitial lung disease promotes a late block in macroautophagy disrupting cellular proteostasis and mitophagy.  [electronic resource] 

 -  American journal of physiology. Lung cellular and molecular physiology  Jan 2015 
 - L33-47 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S. 
<br/><br/><label>ISSN: </label>1522-1504 
<br/><br/><label>Standard No.: </label>10.1152/ajplung.00217.2014  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>ATP-Binding Cassette Transporters--genetics<br/>Adaptor Proteins, Signal Transducing--biosynthesis<br/>Amino Acid Substitution<br/>Autophagy<br/>Autophagy-Related Protein 8 Family<br/>Female<br/>Gene Expression Regulation--genetics<br/>Genetic Diseases, Inborn--genetics<br/>HEK293 Cells<br/>Humans<br/>Infant<br/>Lung Diseases, Interstitial--genetics<br/>Lysosomes--genetics<br/>Membrane Potential, Mitochondrial--genetics<br/>Microfilament Proteins--biosynthesis<br/>Microtubule-Associated Proteins--biosynthesis<br/>Mitochondria--genetics<br/>Mutation, Missense<br/>Proteostasis Deficiencies--genetics<br/>Pulmonary Surfactant-Associated Protein C--genetics<br/>Sequestosome-1 Protein<br/>Ubiquitin-Protein Ligases--biosynthesis<br/>Vacuoles--genetics<br/>rab GTP-Binding Proteins--biosynthesis<br/>rab7 GTP-Binding Proteins