PGK deficiency

British Journal of Haematology
Ernest Beutler

Abstract

Phosphoglycerate kinase (PGK) deficiency is one of the relatively uncommon causes of hereditary non-spherocytic haemolytic anaemia (HNSHA). The gene encoding the erythrocyte enzyme PGK1, is X-linked. Mutations of this gene may cause chronic haemolysis with or without mental retardation and they may cause myopathies, often with episodes of myoglobinuria, or a combination of these clinical manifestations. Twenty-six families have been described and in 20 of these the mutations are known. The reason for different clinical manifestations of mutations of the same gene remains unknown.

References

Aug 19, 1976·The New England Journal of Medicine·Ernest Beutler
May 1, 1977·The Journal of General Physiology·F Proverbio, J F Hoffman
Jun 1, 1978·Proceedings of the National Academy of Sciences of the United States of America·E BeutlerF Matsumoto
Jan 25, 1968·Biochemical and Biophysical Research Communications·A P KrausB L Lynch
Jan 1, 1973·European Journal of Clinical Investigation·P AreseG P Pescarmona
Mar 1, 1973·The Journal of Pediatrics·P N KonradD E Paglia
Nov 1, 1966·The American Journal of Medicine·A S Keitt
Apr 1, 1969·Biochemical Genetics·E Beutler
Jun 1, 1980·The Journal of Pediatrics·R M Barkin, J R Lilly
Jan 1, 1983·Proceedings of the National Academy of Sciences of the United States of America·A M MichelsonS H Orkin
Jun 1, 1983·Proceedings of the National Academy of Sciences of the United States of America·E Beutler
Jan 1, 1983·Annals of Neurology·Salvatore DiMauroA F Miranda
Sep 1, 1980·Proceedings of the National Academy of Sciences of the United States of America·H Fujii, A Yoshida
Apr 1, 1981·Proceedings of the National Academy of Sciences of the United States of America·H FujiiA Yoshida
Mar 1, 1996·Archives of Biochemistry and Biophysics·T OokawaraA Yoshida
Jan 1, 1995·Blood Cells, Molecules & Diseases·A YoshidaE Beutler
May 4, 2002·Blood Cells, Molecules & Diseases·Sonny O AngJosef T Prchal
Nov 5, 2002·Nature Genetics·Sonny O AngJosef T Prchal
Jan 25, 2003·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Costel Spanu, Sebastian Oltean
May 4, 2006·Human Mutation·Jared M BischofTerry A Braun

Citations

Apr 29, 2010·Current Neurology and Neuroscience Reports·Andres BerardoMichio Hirano
Jan 22, 2013·Current Neurology and Neuroscience Reports·Elisabetta GazzerroClaudio Bruno
Apr 20, 2010·Genome Medicine·Raymond DalgleishDonna R Maglott
Feb 22, 2012·PloS One·Laurent Roberto ChiarelliGiovanna Valentini
Jun 21, 2014·Neuromuscular Disorders : NMD·R ZuttM de Visser
Jun 27, 2008·High Altitude Medicine & Biology·Fabiola León-Velarde, Olga Mejía
Jan 23, 2009·Neuromuscular Disorders : NMD·Ronen SpiegelSalvatore DiMauro
Sep 24, 2015·Documenta Ophthalmologica. Advances in Ophthalmology·Safinaz Mohd KhialdinChristopher Troedson
Jul 16, 2010·Risk Analysis : an Official Publication of the Society for Risk Analysis·Elaine GierlachLarry E Beutler
Jan 13, 2011·British Journal of Haematology·Melissa RhodesHaydar Frangoul
Feb 13, 2010·Muscle & Nerve·Evangelia SotiriouSalvatore DiMauro
Nov 26, 2013·La Presse médicale·Rémi Bardet
Sep 24, 2016·Cytokine & Growth Factor Reviews·Shreeram C Nallar, Dhan V Kalvakolanu
Feb 9, 2019·Journal of Inherited Metabolic Disease·Alfonso Oyarzabal, Isaac Marin-Valencia
Apr 6, 2019·Journal of Pediatric Hematology/oncology·Scott K WardManoo Bhakta
Jun 4, 2019·The Journal of International Medical Research·Zhendong GuoJun Qian
Jan 1, 2013·Biomolecules·Giovanna ValentiniAngel L Pey
Jun 6, 2017·Intractable & Rare Diseases Research·Shigeto MatsumaruToshiyuki Yamamoto
Dec 24, 2018·Biochemistry and Molecular Biology Education : a Bimonthly Publication of the International Union of Biochemistry and Molecular Biology·Paula Alvarez AbreuHelena Carla Castro
Nov 4, 2017·Applied Microbiology and Biotechnology·Feng-Jie JinYasuji Koyama
Nov 7, 2018·Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics·Mark A Tarnopolsky
Nov 2, 2016·Frontiers in Molecular Neuroscience·Firas H KobeissyJialing Liu
Jul 14, 2020·Frontiers in Immunology·Anna ZaninoniPaola Bianchi
Aug 20, 2019·Pediatric Hematology and Oncology·Ahmar U ZaidiYaddanapudi Ravindranath

Related Concepts

Anemia, Hemolytic, Congenital Nonspherocytic
Phosphoglycerate KINASE
Protein Conformation
Genetic Diseases, X-Linked

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Neural Activity: Imaging

Imaging of neural activity in vivo has developed rapidly recently with the advancement of fluorescence microscopy, including new applications using miniaturized microscopes (miniscopes). This feed follows the progress in this growing field.

The Tendon Seed Network

Tendons are rich in the extracellular matrix and are abundant throughout the body providing essential roles including structure and mobility. The transcriptome of tendons is being compiled to understand the micro-anatomical functioning of tendons. Discover the latest research pertaining to the Tendon Seed Network here.

Myocardial Stunning

Myocardial stunning is a mechanical dysfunction that persists after reperfusion of previously ischemic tissue in the absence of irreversible damage including myocardial necrosis. Here is the latest research.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Incretins

Incretins are metabolic hormones that stimulate a decrease in glucose levels in the blood and they have been implicated in glycemic regulation in the remission phase of type 1 diabetes. Here is the latest research.

Chromatin Regulation and Circadian Clocks

The circadian clock plays an important role in regulating transcriptional dynamics through changes in chromatin folding and remodelling. Discover the latest research on Chromatin Regulation and Circadian Clocks here.

Long COVID-19

“Long Covid-19” describes illness in patients who are reporting long-lasting effects of the SARS-CoV-19 infection, often long after they have recovered from acute Covid-19. Ongoing health issues often reported include low exercise tolerance and breathing difficulties, chronic tiredness, and mental health problems such as post-traumatic stress disorder and depression. This feed follows the latest research into Long Covid.

Spatio-Temporal Regulation of DNA Repair

DNA repair is a complex process regulated by several different classes of enzymes, including ligases, endonucleases, and polymerases. This feed focuses on the spatial and temporal regulation that accompanies DNA damage signaling and repair enzymes and processes.