Results 161 to 170 of about 5,912 (202)

Structure and function of the EDEM:PDI ERAD checkpoint complex

Hitchman CJ, Lia A, Chiritoiu GN, Munteanu CVA, Ortigosa JR, Ghenea S, Savva C, Wada I, De Benedictis M, Tax G, Bayo Y, Crescioli I, Alonzi DL, Quigley A, Modenutti CP, Petrescu SM, Santino A, Gooptu B, Hosokawa N, Roversi P.   +19 more
europepmc   +1 more source

Convergent evolution of somatic escape variants inSERPINA1in the liver in alpha-1 anti-trypsin deficiency

Brzozowska N, Wu LY, Khodzhaeva V, Griffiths WJ, Duckworth A, Jung H, Coorens THH, Hooks Y, Chambers JE, Campbell PJ, Marciniak SJ, Hoare M.   +11 more
europepmc   +1 more source

Diagnosis and Management of Patients With α1-Antitrypsin (A1AT) Deficiency [PDF]

Clinical Gastroenterology and Hepatology, 2012
Alpha(1)-antitrypsin (A1AT) deficiency is an autosomal codominant disease that can cause chronic liver disease, cirrhosis, and hepatocellular carcinoma in children and adults and increases risk for emphysema in adults. The development of symptomatic disease varies; some patients have life-threatening symptoms in childhood, whereas others remain ...
David R Nelson, Jeffrey H Teckman, David A Brenner   +2 more
exaly   +3 more sources

Purified A1AT holds promise as therapy for acute liver failure [PDF]

Nature Reviews Gastroenterology and Hepatology, 2014
Katrina M Ray
exaly   +3 more sources

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Alpha1-antitrypsin (A1AT) accumulation in livers of emphysematous patients with A1AT deficiency

Human Pathology, 1972
Abstract An inherited deficiency of alpha 1 -antitrypsin (A 1 AT) in human serum predisposes to the development of pulmonary emphysema. A 1 AT is synthesized primarily by the liver, but no specific liver abnormality has been described in deficient subjects with lung disease. Fourteen of 17 livers from emphysematous patients with a Pi z variant of A 1
H W, Gordon, J, Dixon, J C, Rogers, C, Mittman, J, Lieberman   +4 more
exaly   +3 more sources

A1AT In Human Neutrophil Granulocytes.

Blood, 2010
Abstract Abstract 3784 Alpha-1-antitrypsin (A1AT) is an important inhibitor of the neutrophil serine proteases elastase, cathepsin G, and proteinase 3. A1AT is produced mainly by the liver and secreted to plasma. A1AT deficiency caused by the PiZZ mutation in the A1AT gene leads to accumulation of mutated A1AT in the liver
Stine Novrup Clemmensen, Lars C. Jacobsen, Sara Roervig, Bent Adel Hansen, Martin Iversen, Jack B Cowland, Bo van Deurs, Bjarke Askaa, Niels Borregaard   +8 more
openaire   +1 more source

Alpha-1-Antitrypsin (A1AT) Proteotyping by LC-MS/MS

2023
The diagnosis of alpha-1-antitrypsin (A1AT) deficiency is established by quantitation of protein concentration in serum (immunoassay) followed by determination of specific allelic variants by phenotyping (isoelectric focusing (IEF) gel electrophoresis) and/or allele-specific genotyping.
Jennifer, Kemp, Paula M, Ladwig, Melissa R, Snyder   +2 more
openaire   +2 more sources

Novel Biological Functions of A1AT

2017
Sabina Janciauskiene
exaly   +2 more sources

a1-antitrypsin (A1AT) deficiency presenting with IgA nephropathy and nephrotic syndrome: is renal involvement caused by A1AT deposition?

Clinical Nephrology, 2008
The role of severe a1-antitrypsin (A1AT) deficiency in the predisposition of early-onset pulmonary emphysema and juvenile hepatic cirrhosis is well-established. Associated glomerulonephritis is unusual although it is well-recognized in children and young adults with the severe phenotype. We report the first adult case of A1AT deficiency presenting with
S M S, Ting, T, Toth, F, Caskey
openaire   +2 more sources