Results 31 to 40 of about 38,743 (241)

A monomeric form of pyruvate kinase in human pyruvate kinase deficiency. [PDF]

Proceedings of the National Academy of Sciences, 1977
A mutant pyruvate kinase (ATP:pyruvate 2-O-phosphotransferase, EC 2.7.1.40) from human erythrocytes which is easily separated into monomers and dimers by gel chromatography is described. Tht mutant enzyme shows almost the same pH optimum and thermostability as normal enzyme, but has a decreased stability on shaking with air, a decreased Km for ...
K, Adachi, P K, Ghory, T, Asakura, E, Schwartz   +3 more
openaire   +2 more sources

Characterization of the severe phenotype of pyruvate kinase deficiency [PDF]

American Journal of Hematology, 2019
Background: Pyruvate kinase deficiency (PKD) is the most common cause of chronic hereditary non-spherocytic hemolytic anemia. The spectrum of disease in PKD is broad, ranging from an incidentally discovered mild anemia to a severe transfusion-dependent anemia.
Hanny Al‐Samkari, Eduard J. van Beers, D. Holmes Morton, Wilma Barcellini, Stefan W. Eber, Bertil Glader, Hassan M. Yaish, Satheesh Chonat, Kevin H. M. Kuo, Nina Kollmar, Jenny M. Despotovic, Dagmar Pospíšilová, Christine M. Knoll, Janet L. Kwiatkowski, Yves D. Pastore, Alexis A. Thompson, Marcin W. Wlodarski, Yaddanapudi Ravindranath, Jennifer A. Rothman, Heng Wang, Susanne Holzhauer, Vicky R. Breakey, Madeleine M. Verhovsek, Joachim Kunz, Sujit Sheth, Mukta Sharma, Melissa J. Rose, Heather A. Bradeen, Melissa N. McNaull, Kathryn Addonizio, Hasan Al‐Sayegh, Wendy B. London, Rachael F. Grace   +32 more
openaire   +3 more sources

Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells

Stem Cell Reports, 2015
Pyruvate kinase deficiency (PKD) is a rare erythroid metabolic disease caused by mutations in the PKLR gene. Erythrocytes from PKD patients show an energetic imbalance causing chronic non-spherocytic hemolytic anemia, as pyruvate kinase defects impair ...
Zita Garate, Oscar Quintana-Bustamante, Ana M. Crane, Emmanuel Olivier, Laurent Poirot, Roman Galetto, Penelope Kosinski, Collin Hill, Charles Kung, Xabi Agirre, Israel Orman, Laura Cerrato, Omaira Alberquilla, Fatima Rodriguez-Fornes, Noemi Fusaki, Felix Garcia-Sanchez, Tabita M. Maia, Maria L. Ribeiro, Julian Sevilla, Felipe Prosper, Shengfang Jin, Joanne Mountford, Guillermo Guenechea, Agnes Gouble, Juan A. Bueren, Brian R. Davis, Jose C. Segovia   +26 more
doaj   +1 more source

Erythrocyte Pyruvate Kinase Deficiency mutation identified in multiple breeds of domestic cats

BMC Veterinary Research, 2012
Background Erythrocyte pyruvate kinase deficiency (PK deficiency) is an inherited hemolytic anemia that has been documented in the Abyssinian and Somali breeds as well as random bred domestic shorthair cats.
Grahn Robert A, Grahn Jennifer C, Penedo Maria CT, Helps Chris R, Lyons Leslie A   +4 more
doaj   +1 more source

FREQUENCY OF PYRUVATE KINASE (PK) DEFICIENCY IN NEONATES WITH HAEMOLYTIC ANAEMIA

Pakistan Armed Forces Medical Journal, 2015
Objective: To determine the frequency of pyruvate kinase deficiency in neonates presenting with haemolytic anaemia. Study Design: Cross sectional descriptive study.
Jahanzeb ur Rehman, Suhaib Ahmed, Farhat Abbas Bhatti, Nadir Ali   +3 more
doaj   +2 more sources

Hyperosmotic stress induces PARP1‐mediated HPF1‐dependent mono(ADP‐ribosyl)ation

FEBS Letters, EarlyView.
Sorbitol‐induced hyperosmotic stress rapidly induces reversible mono(ADP‐ribosyl)ation (MARylation) on PARP1 without the signs of genotoxic signaling. We show that PARP1 autoMARylation is HPF1 dependent and forms hydroxylamine‐resistant O‐glycosidic linkages.
Anna Georgina Kopasz, Mihály Mérey, Rebeka Vásárhelyi, Ramóna Pék, Victor Imburchia, László Henn, Adrián Kószó, Nicholas D. Lakin, Ivan Ahel, Sébastien Huet, Ágnes Czibula, Gyula Timinszky   +11 more
wiley   +1 more source

The variable manifestations of disease in pyruvate kinase deficiency and their management

Haematologica, 2020
Pyruvate kinase deficiency (PKD) is the most common cause of chronic hereditary non-spherocytic hemolytic anemia and results in a broad spectrum of disease.
Hanny Al-Samkari, Eduard J. van Beers, Kevin H.M. Kuo, Wilma Barcellini, Paola Bianchi, Andreas Glenthøj, María del Mar Mañú Pereira, Richard van Wijk, Bertil Glader, Rachael F. Grace   +9 more
doaj   +1 more source

Tumour–host interactions in Drosophila: mechanisms in the tumour micro‐ and macroenvironment

Molecular Oncology, EarlyView.
This review examines how tumour–host crosstalk takes place at multiple levels of biological organisation, from local cell competition and immune crosstalk to organism‐wide metabolic and physiological collapse. Here, we integrate findings from Drosophila melanogaster studies that reveal conserved mechanisms through which tumours hijack host systems to ...
José Teles‐Reis, Tor Erik Rusten
wiley   +1 more source

CCDC80 suppresses high‐grade serous ovarian cancer migration via negative regulation of B7‐H3

Molecular Oncology, EarlyView.
PAX8 is a lineage‐specific master regulator of transcription in high‐grade serous ovarian cancer (HGSC) progression. We show for the first time that PAX8 facilitates proliferation and metastasis by repressing the cell autonomous tumor suppressor CCDC80 and inducing B7‐H3 expression.
Aya Saleh, Nitzan Medina‐Itzhaki, Milena Chekov, Eden Gal‐Swisa, Roba Gabesh‐Wahabi, Inbar Savyon, Inna Naroditsky, Hilary A. Kenny, Basem Fares, Lina Korsensky, Einav Girsh, Liron Berger, Ruth Perets   +12 more
wiley   +1 more source

Finding novel vulnerabilities of hypomorphic BRCA1 alleles

Molecular Oncology, EarlyView.
Synthetic lethality screens performed to identify novel vulnerabilities often model complete gene loss, thereby overlooking patient‐derived hypomorphic mutations. In this study, we have performed genome‐wide CRISPR screens on BRCA1 hypomorphic mutations, showing BRCA1I26A behaves like wild‐type, while BRCA1R1699Q mimics deficiency. Furthermore, we have
Anne Schreuder, Klaas de Lint, Hồ Mỹ Phúc Võ, Mariana M. Góis, Rosalie A. Kampen, Marta San Martin Alonso, Ilse Nootenboom, Veronica Garzero, Tiemen J. Wendel, Rob M. F. Wolthuis, Sylvie M. Noordermeer   +10 more
wiley   +1 more source