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Showing 1 to 5 of 5 entries
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Alpha 1-Antitrypsin deficiency in liver explants in a Mexican cohort: A unique cohort to assess the role of heterozygous genotypes in liver disease.

Clinics and research in hepatology and gastroenterology

Karatas E, Bouchecareilh M.
PMID: 33069636
Clin Res Hepatol Gastroenterol. 2021 May;45(3):101538. doi: 10.1016/j.clinre.2020.09.003. Epub 2020 Oct 14.

No abstract available.

Hepatocyte proteomes reveal the role of protein disulfide isomerase 4 in alpha 1-antitrypsin deficiency.

JHEP reports : innovation in hepatology

Karatas E, Raymond AA, Leon C, Dupuy JW, Di-Tommaso S, Senant N, Collardeau-Frachon S, Ruiz M, Lachaux A, Saltel F, Bouchecareilh M.
PMID: 34151245
JHEP Rep. 2021 Apr 24;3(4):100297. doi: 10.1016/j.jhepr.2021.100297. eCollection 2021 Aug.

BACKGROUND & AIMS: A single point mutation in the Z-variant of alpha 1-antitrypsin (Z-AAT) alone can lead to both a protein folding and trafficking defect, preventing its exit from the endoplasmic reticulum (ER), and the formation of aggregates that...

Downregulation of Glutamine Synthetase, not glutaminolysis, is responsible for glutamine addiction in Notch1-driven acute lymphoblastic leukemia.

Molecular oncology

Nguyen TL, Nokin MJ, Terés S, Tomé M, Bodineau C, Galmar O, Pasquet JM, Rousseau B, van Liempd S, Falcon-Perez JM, Richard E, Muzotte E, Rezvani HR, Priault M, Bouchecareilh M, Redonnet-Vernhet I, Calvo J, Uzan B, Pflumio F, Fuentes P, Toribio ML, Khatib AM, Soubeyran P, Murdoch PDS, Durán RV.
PMID: 33314742
Mol Oncol. 2021 May;15(5):1412-1431. doi: 10.1002/1878-0261.12877. Epub 2021 Feb 13.

The cellular receptor Notch1 is a central regulator of T-cell development, and as a consequence, Notch1 pathway appears upregulated in > 65% of the cases of T-cell acute lymphoblastic leukemia (T-ALL). However, strategies targeting Notch1 signaling render only modest...

Alpha-1 Antitrypsin Deficiency-Mediated Liver Toxicity: Why Do Some Patients Do Poorly? What Do We Know So Far?.

Chronic obstructive pulmonary diseases (Miami, Fla.)

Bouchecareilh M.
PMID: 32558486
Chronic Obstr Pulm Dis. 2020 Jul;7(3):172-181. doi: 10.15326/jcopdf.7.3.2019.0148.

Alpha-1 antitrypsin deficiency (AATD) is a rare genetic disease caused by mutations in the

Downregulation of Glutamine Synthetase, not glutaminolysis, is responsible for glutamine addiction in Notch1-driven acute lymphoblastic leukemia.

Molecular oncology

Nguyen TL, Nokin MJ, Terés S, Tomé M, Bodineau C, Galmar O, Pasquet JM, Rousseau B, van Liempd S, Falcon-Perez JM, Richard E, Muzotte E, Rezvani HR, Priault M, Bouchecareilh M, Redonnet-Vernhet I, Calvo J, Uzan B, Pflumio F, Fuentes P, Toribio ML, Khatib AM, Soubeyran P, Murdoch PDS, Durán RV.
PMID: 33314742
Mol Oncol. 2021 May;15(5):1412-1431. doi: 10.1002/1878-0261.12877. Epub 2021 Feb 13.

The cellular receptor Notch1 is a central regulator of T-cell development, and as a consequence, Notch1 pathway appears upregulated in > 65% of the cases of T-cell acute lymphoblastic leukemia (T-ALL). However, strategies targeting Notch1 signaling render only modest...

Showing 1 to 5 of 5 entries