Disorders of protein misfolding: Alpha-1-antitrypsin deficiency as prototype

Journal of Pediatrics

Volumn 163, Issue 2, 2013, Pages 320-326

  Silverman, Gary A ^a   Pak, Stephen C ^a   Perlmutter, David H ^a  

^a UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

Author keywords

Alpha 1 antitrypsin; Alpha 1 antitrypsin deficiency; AT; ATD; ATM; ATZ; Carbamazepine; CBZ; Chronic obstructive pulmonary disease; COPD; Endoplasmic reticulum; ER; FDA; Federal Drug Administration; Mutant alpha 1 antitrypsin Z; Normal (wild type) alpha 1 antitrypsin; PBA; Phenylbutyric acid; RNA interference; RNAi; Single nucleotide polymorphism; SNP

Indexed keywords

4 PHENYLBUTYRIC ACID; ALPHA 1 ANTITRYPSIN; CATHEPSIN G; ENDOTHELIAL NITRIC OXIDE SYNTHASE; GLUTATHIONE TRANSFERASE P1; INTERLEUKIN 10; LEUKOCYTE ELASTASE; MUTANT PROTEIN; MYELOBLASTIN; PHENOTHIAZINE; PROTEASOME; TRANSCRIPTOME; TUMOR NECROSIS FACTOR ALPHA; VORINOSTAT;

ALPHA 1 ANTITRYPSIN DEFICIENCY; ALZHEIMER DISEASE; ARTICLE; AUTOPHAGOSOME; AUTOPHAGY; CAENORHABDITIS ELEGANS; CARCINOGENESIS; CELL THERAPY; CHLORIDE TRANSPORT; CHRONIC OBSTRUCTIVE LUNG DISEASE; CYSTIC FIBROSIS; DIABETES MELLITUS; DNA FLANKING REGION; ENDOPLASMIC RETICULUM; EPITHELIUM CELL; GAIN OF FUNCTION MUTATION; GENE TARGETING; GENETIC VARIABILITY; HEAT SHOCK RESPONSE; HUMAN; HUNTINGTON CHOREA; LIVER FIBROSIS; LIVER TRANSPLANTATION; LOSS OF FUNCTION MUTATION; MONONUCLEAR PHAGOCYTE; NONHUMAN; PHASE 2 CLINICAL TRIAL (TOPIC); PHASE 3 CLINICAL TRIAL (TOPIC); PHENOTYPE; POINT MUTATION; PORTAL HYPERTENSION; PRIORITY JOURNAL; PROTEIN FOLDING; PROTEIN HOMEOSTASIS; RANDOMIZED CONTROLLED TRIAL (TOPIC); RESPIRATORY FAILURE; RNA SEQUENCE; SINGLE NUCLEOTIDE POLYMORPHISM; SMOKING; TARGET ORGAN; TRANSCRIPTION INITIATION; UNFOLDED PROTEIN RESPONSE;

ALPHA-1-ANTITRYPSIN; ALPHA-1-ANTITRYPSIN DEFICIENCY; AT; ATD; ATM; ATZ; CARBAMAZEPINE; CBZ; CHRONIC OBSTRUCTIVE PULMONARY DISEASE; COPD; ENDOPLASMIC RETICULUM; ER; FDA; FEDERAL DRUG ADMINISTRATION; MUTANT ALPHA-1-ANTITRYPSIN Z; NORMAL (WILD TYPE) ALPHA-1-ANTITRYPSIN; PBA; PHENYLBUTYRIC ACID; RNA INTERFERENCE; RNAI; SINGLE NUCLEOTIDE POLYMORPHISM; SNP;

ALPHA 1-ANTITRYPSIN DEFICIENCY; ANIMALS; CAENORHABDITIS ELEGANS; DISEASE MODELS, ANIMAL; HUMANS; PROTEOSTASIS DEFICIENCIES;

EID: 84880606810     PISSN: 00223476     EISSN: 10976833     Source Type: Journal    
DOI: 10.1016/j.jpeds.2013.03.077     Document Type: Article

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