In Vivo Genome Editing Partially Restores Alpha1-Antitrypsin in a Murine Model of AAT Deficiency.
Sign Up to like & getrecommendations! Published in 2018 at "Human gene therapy"
DOI: 10.1089/hum.2017.225
Abstract: CRISPR (clustered regularly interspaced short palindromic repeats) genome editing holds promise in the treatment of genetic diseases that currently lack effective long-term therapies. Patients with alpha-1 antitrypsin (AAT) deficiency develop progressive lung disease due to… read more here.
Keywords: genome editing; crispr; vivo genome; model ... See more keywords
Diagnosing alpha-1 antitrypsin deficiency: the first step in precision medicine
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DOI: 10.12688/f1000research.12399.1
Abstract: Severe alpha-1 antitrypsin (AAT) deficiency is one of the most common serious genetic diseases in adults of European descent. Individuals with AAT deficiency have a greatly increased risk for emphysema and liver disease. Other manifestations… read more here.
Keywords: medicine; precision medicine; deficiency first; alpha antitrypsin ... See more keywords
Genetic and Serum Screening for Alpha-1-Antitrypsin Deficiency in Adult Patients with Cystic Fibrosis: A Single-Center Experience
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DOI: 10.3390/biomedicines10123248
Abstract: Cystic fibrosis (CF) and alpha-1 antitrypsin (AAT) deficiency are two of the commonest genetic diseases affecting the Caucasian population. Neutrophil-mediated inflammation due to protease–antiprotease imbalance leads to progressive pulmonary involvement in both diseases. The aim… read more here.
Keywords: aat deficiency; deficiency; cystic fibrosis; alpha antitrypsin ... See more keywords