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1975 1
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4,823 results

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Quoted phrase not found in phrase index: "TMEM165-congenital disorder of glycosylation"
Page 1
Roles of CA19-9 in pancreatic cancer: Biomarker, predictor and promoter.
Luo G, Jin K, Deng S, Cheng H, Fan Z, Gong Y, Qian Y, Huang Q, Ni Q, Liu C, Yu X. Luo G, et al. Biochim Biophys Acta Rev Cancer. 2021 Apr;1875(2):188409. doi: 10.1016/j.bbcan.2020.188409. Epub 2020 Aug 19. Biochim Biophys Acta Rev Cancer. 2021. PMID: 32827580 Review.
Carbohydrate antigen 19-9 (CA19-9) is the best validated biomarker and an indicator of aberrant glycosylation in pancreatic cancer. CA19-9 functions as a biomarker, predictor, and promoter in pancreatic cancer. ...As a promoter, CA19-9 could be used to evaluate the biology …
Carbohydrate antigen 19-9 (CA19-9) is the best validated biomarker and an indicator of aberrant glycosylation in pancreatic cancer. C …
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.
Altassan R, Péanne R, Jaeken J, Barone R, Bidet M, Borgel D, Brasil S, Cassiman D, Cechova A, Coman D, Corral J, Correia J, de la Morena-Barrio ME, de Lonlay P, Dos Reis V, Ferreira CR, Fiumara A, Francisco R, Freeze H, Funke S, Gardeitchik T, Gert M, Girad M, Giros M, Grünewald S, Hernández-Caselles T, Honzik T, Hutter M, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-de-Silva D, Martinez AF, Moravej H, Õunap K, Pascoal C, Pascreau T, Patterson M, Quelhas D, Raymond K, Sarkhail P, Schiff M, Seroczyńska M, Serrano M, Seta N, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Witters P, Zeevaert R, Morava E. Altassan R, et al. J Inherit Metab Dis. 2019 Jan;42(1):5-28. doi: 10.1002/jimd.12024. J Inherit Metab Dis. 2019. PMID: 30740725
Phosphomannomutase 2 (PMM2-CDG) is the most common congenital disorder of N-glycosylation and is caused by a deficient PMM2 activity. ...
Phosphomannomutase 2 (PMM2-CDG) is the most common congenital disorder of N-glycosylation and is caused by a deficient PMM2 ac …
Platelets and Defective N-Glycosylation.
Mammadova-Bach E, Jaeken J, Gudermann T, Braun A. Mammadova-Bach E, et al. Int J Mol Sci. 2020 Aug 6;21(16):5630. doi: 10.3390/ijms21165630. Int J Mol Sci. 2020. PMID: 32781578 Free PMC article. Review.
Defects in N-glycosylation and O-glycosylation constitute the largest CDG groups. ...In this review, we highlight normal and deficient N-glycosylation of platelet-derived molecules and discuss the involvement of platelets in the congenital disorders of …
Defects in N-glycosylation and O-glycosylation constitute the largest CDG groups. ...In this review, we highlight normal and d …
Manganese-induced turnover of TMEM165.
Potelle S, Dulary E, Climer L, Duvet S, Morelle W, Vicogne D, Lebredonchel E, Houdou M, Spriet C, Krzewinski-Recchi MA, Peanne R, Klein A, de Bettignies G, Morsomme P, Matthijs G, Marquardt T, Lupashin V, Foulquier F. Potelle S, et al. Biochem J. 2017 Apr 19;474(9):1481-1493. doi: 10.1042/BCJ20160910. Biochem J. 2017. PMID: 28270545 Free PMC article.
TMEM165 deficiencies lead to one of the congenital disorders of glycosylation (CDG), a group of inherited diseases where the glycosylation process is altered. We recently demonstrated that the Golgi glycosylation defect due to TMEM165 deficiency result …
TMEM165 deficiencies lead to one of the congenital disorders of glycosylation (CDG), a group of inherited diseases where the …
What is new in CDG?
Jaeken J, Péanne R. Jaeken J, et al. J Inherit Metab Dis. 2017 Jul;40(4):569-586. doi: 10.1007/s10545-017-0050-6. Epub 2017 May 8. J Inherit Metab Dis. 2017. PMID: 28484880 Review.
Congenital disorders of glycosylation (CDG) are one group among the disorders of glycosylation. ...Genetic diseases with hypoglycosylation can be divided in primary congenital disorders of glycosylation (CDG) and in genetic diseases causi …
Congenital disorders of glycosylation (CDG) are one group among the disorders of glycosylation. ...Genetic disea …
2022 Overview of Metabolic Epilepsies.
Tumiene B, Ferreira CR, van Karnebeek CDM. Tumiene B, et al. Genes (Basel). 2022 Mar 12;13(3):508. doi: 10.3390/genes13030508. Genes (Basel). 2022. PMID: 35328062 Free PMC article. Review.
Six hundred metabolic epilepsies have been identified, accounting for as much as 37% of all currently described inherited metabolic diseases (IMD). Epilepsy is a particularly common symptom in disorders of energy metabolism, congenital disorders of glycosylation …
Six hundred metabolic epilepsies have been identified, accounting for as much as 37% of all currently described inherited metabolic diseases …
Congenital disorders of glycosylation and infantile epilepsy.
Lee HF, Chi CS. Lee HF, et al. Epilepsy Behav. 2023 May;142:109214. doi: 10.1016/j.yebeh.2023.109214. Epub 2023 Apr 21. Epilepsy Behav. 2023. PMID: 37086590 Review.
Congenital disorders of glycosylation (CDG) are a group of rare inherited metabolic disorders caused by defects in various defects of protein or lipid glycosylation pathways. ...
Congenital disorders of glycosylation (CDG) are a group of rare inherited metabolic disorders caused by defects in vari …
Congenital disorders of glycosylation: narration of a story through its patents.
Monticelli M, D'Onofrio T, Jaeken J, Morava E, Andreotti G, Cubellis MV. Monticelli M, et al. Orphanet J Rare Dis. 2023 Aug 29;18(1):247. doi: 10.1186/s13023-023-02852-w. Orphanet J Rare Dis. 2023. PMID: 37644541 Free PMC article. Review.
Congenital disorders of glycosylation are a group of more than 160 rare genetic defects in protein and lipid glycosylation. ...
Congenital disorders of glycosylation are a group of more than 160 rare genetic defects in protein and lipid glycosylation …
Genomics of aging: Glycosylation.
Wysocki K, Seibert D. Wysocki K, et al. J Am Assoc Nurse Pract. 2021 Apr 1;33(4):263-265. doi: 10.1097/JXX.0000000000000603. J Am Assoc Nurse Pract. 2021. PMID: 33797514
This third article in the Genomics of Aging series explores the process of glycosylation and how abnormal glycosylation contributes to aging and disease (i.e., diabetes, cardiovascular disease [CVD], neurological disorder, and cancer). ...Gradua …
This third article in the Genomics of Aging series explores the process of glycosylation and how abnormal glycosylation contri …
Glycosylation and Cardiovascular Diseases.
Dashti H, Pabon Porras MA, Mora S. Dashti H, et al. Adv Exp Med Biol. 2021;1325:307-319. doi: 10.1007/978-3-030-70115-4_15. Adv Exp Med Biol. 2021. PMID: 34495542
Cardiovascular disease (CVD) is the leading cause of death worldwide, accounting for approximately 18 million deaths in 2017. Coronary artery disease is the predominant cause of death from CVD, followed by stroke. ...
Cardiovascular disease (CVD) is the leading cause of death worldwide, accounting for approximately 18 million deaths in 2017. Coronar …
4,823 results