In homozygous ZZ alpha-1-antitrypsin (AAT) deficiency large quantities of AAT mutant Z protein are synthesized in the liver, but the mutant Z protein folds improperly during biogenesis and is retained within the hepatocytes rather than appropriately secreted. The retained mutant Z protein is ...
Alpha-1 antitrypsin deficiency (AATD) arises from mutations in the SERPINA1 gene encoding alpha-1 antitrypsin (AAT) that lead to AAT retention in the endoplasmic reticulum of hepatocytes, causing proteotoxic liver injury and loss-of-function lung disease. The homozygous Pi∗Z mutation (Pi∗ZZ ...
SomaScan蛋白质组学—揭示Alpha-1 抗胰蛋白酶缺乏症和慢性阻塞性肺疾病肺气肿的独特和共享全身生物标志物 文章题目:Unique and shared systemic biomarkers for emphysema in Alpha-1 Antitrypsin deficiency and chronic obstructive pulmonary disease 中文题目:Alpha-1 抗胰蛋白酶缺乏症和慢性阻塞性肺疾病肺气肿的独特和...
Inherited deficiency of the antiprotease alpha-1 antitrypsin (AAT) is associated with liver failure and early-onset emphysema. In mice, in vivo lentiviral transduction of alveolar macrophages (AMs) has been described to yield protective pulmonary AAT levels and ameliorate emphysema development. We here...
Alpha-1抗胰蛋白酶缺乏症(Alpha-1 antitrypsin deficiency)采用全外显子测序基因解码技术为什么会减少误诊的可能性 Alpha-1抗胰蛋白酶缺乏症是一种遗传性疾病,由于缺乏Alpha-1抗胰蛋白酶(AAT)蛋白的正常功能,导致肺部和肝脏的疾病。全外显子测序基因解码技术可以帮助减少Alpha-1抗胰蛋白酶缺乏症的误诊可能性,原因如...
Alpha-1抗胰蛋白酶缺乏症(Alpha-1 antitrypsin deficiency)基因检测包含具有相似症状的疾病的致病基因为什么会降低疾病确诊所需的时间? Alpha-1抗胰蛋白酶缺乏症是一种遗传性疾病,由SERPINA1基因突变引起。这种突变导致Alpha-1抗胰蛋白酶(AAT)蛋白的产量减少或功能异常,从而使得患者易受到肺部和肝脏疾病的影响。 基因检...
A relationship between the development of emphysema and low serum levels of alpha-1-antitrypsin (AAT) was first noted in 1963 by Laurell and Eriksson [1]. A few years later, Sharp et al. [2] reported liver damage in AAT deficiency (AATD) AAT, also referr
Although alpha1-antitrypsin (AAT) deficiency typically causes emphysema, it also can produce airway obstruction with no evidence of alveolar destruction. Thus, the progressing disease and the growing risk of emphysema may go undiagnosed for years in patients with asthma. In this article, the authors...
Alpha 1 is the common name for a genetic condition called Alpha 1 Antitrypsin Deficiency. If a person has Alpha 1, the body is unable to produce a protein known as Alpha 1 Antitrypsin, or AAT for short. This protein plays an important role in protecting the lungs from damage due to exce...
The Alpha One International Registry (AIR), a multinational research program focused on alpha1-antitrypsin (AAT) deficiency, was formed in response to a World Health Organization recommendation. Each of the nearly 20 participating countries maintains a n