Targeted disruption of the mouse phosphomannomutase 2 gene causes early embryonic lethality

Thiel C, Lübke T, Matthijs G, von Figura K, Körner C (2006)
Molecular and Cellular Biology 26(15): 5615-5620.

Zeitschriftenaufsatz | Veröffentlicht | Englisch
 
Download
Es wurden keine Dateien hochgeladen. Nur Publikationsnachweis!
DOI
Autor*in
Thiel, Christian; Lübke, TorbenUniBi ; Matthijs, Gert; von Figura, Kurt; Körner, Christian
Einrichtung
Fakultät für Chemie > Biochemie I
Erscheinungsjahr
2006
Zeitschriftentitel
Molecular and Cellular Biology
Band
26
Ausgabe
15
Seite(n)
5615-5620
ISSN
0270-7306
Page URI
https://pub.uni-bielefeld.de/record/1940045

Zitieren

Thiel C, Lübke T, Matthijs G, von Figura K, Körner C. Targeted disruption of the mouse phosphomannomutase 2 gene causes early embryonic lethality. Molecular and Cellular Biology. 2006;26(15):5615-5620.
Thiel, C., Lübke, T., Matthijs, G., von Figura, K., & Körner, C. (2006). Targeted disruption of the mouse phosphomannomutase 2 gene causes early embryonic lethality. Molecular and Cellular Biology, 26(15), 5615-5620. https://doi.org/10.1128/MCB.02391-05
Thiel, Christian, Lübke, Torben, Matthijs, Gert, von Figura, Kurt, and Körner, Christian. 2006. “Targeted disruption of the mouse phosphomannomutase 2 gene causes early embryonic lethality”. Molecular and Cellular Biology 26 (15): 5615-5620.
Thiel, C., Lübke, T., Matthijs, G., von Figura, K., and Körner, C. (2006). Targeted disruption of the mouse phosphomannomutase 2 gene causes early embryonic lethality. Molecular and Cellular Biology 26, 5615-5620.
Thiel, C., et al., 2006. Targeted disruption of the mouse phosphomannomutase 2 gene causes early embryonic lethality. Molecular and Cellular Biology, 26(15), p 5615-5620.
C. Thiel, et al., “Targeted disruption of the mouse phosphomannomutase 2 gene causes early embryonic lethality”, Molecular and Cellular Biology, vol. 26, 2006, pp. 5615-5620.
Thiel, C., Lübke, T., Matthijs, G., von Figura, K., Körner, C.: Targeted disruption of the mouse phosphomannomutase 2 gene causes early embryonic lethality. Molecular and Cellular Biology. 26, 5615-5620 (2006).
Thiel, Christian, Lübke, Torben, Matthijs, Gert, von Figura, Kurt, and Körner, Christian. “Targeted disruption of the mouse phosphomannomutase 2 gene causes early embryonic lethality”. Molecular and Cellular Biology 26.15 (2006): 5615-5620.

36 Zitationen in Europe PMC

Daten bereitgestellt von Europe PubMed Central.

Yeast Models of Phosphomannomutase 2 Deficiency, a Congenital Disorder of Glycosylation.
Lao JP, DiPrimio N, Prangley M, Sam FS, Mast JD, Perlstein EO., G3 (Bethesda) 9(2), 2019
PMID: 30530630
Genetic predisposition to fetal alcohol syndrome: association with congenital disorders of N-glycosylation.
de la Morena-Barrio ME, Ballesta-Martínez MJ, López-Gálvez R, Antón AI, López-González V, Martínez-Ribot L, Padilla J, Miñano A, García-Algar O, Del Campo M, Corral J, Guillén-Navarro E, Vicente V., Pediatr Res 83(1-1), 2018
PMID: 28820871
Nrf2 activation attenuates genetic endoplasmic reticulum stress induced by a mutation in the phosphomannomutase 2 gene in zebrafish.
Mukaigasa K, Tsujita T, Nguyen VT, Li L, Yagi H, Fuse Y, Nakajima-Takagi Y, Kato K, Yamamoto M, Kobayashi M., Proc Natl Acad Sci U S A 115(11), 2018
PMID: 29472449
CDG Therapies: From Bench to Bedside.
Brasil S, Pascoal C, Francisco R, Marques-da-Silva D, Andreotti G, Videira PA, Morava E, Jaeken J, Dos Reis Ferreira V., Int J Mol Sci 19(5), 2018
PMID: 29702557
Pharmacological Chaperoning: A Potential Treatment for PMM2-CDG.
Yuste-Checa P, Brasil S, Gámez A, Underhaug J, Desviat LR, Ugarte M, Pérez-Cerdá C, Martinez A, Pérez B., Hum Mutat 38(2), 2017
PMID: 27774737
Molecular cloning and functional analysis of the phosphomannomutase (PMM) gene from Dendrobium officinale and evidence for the involvement of an abiotic stress response during germination.
He C, Zeng S, Teixeira da Silva JA, Yu Z, Tan J, Duan J., Protoplasma 254(4), 2017
PMID: 27987037
A mutant of phosphomannomutase1 retains full enzymatic activity, but is not activated by IMP: Possible implications for the disease PMM2-CDG.
Citro V, Cimmaruta C, Liguori L, Viscido G, Cubellis MV, Andreotti G., PLoS One 12(12), 2017
PMID: 29261720
Glycomic Characterization of Induced Pluripotent Stem Cells Derived from a Patient Suffering from Phosphomannomutase 2 Congenital Disorder of Glycosylation (PMM2-CDG).
Thiesler CT, Cajic S, Hoffmann D, Thiel C, van Diepen L, Hennig R, Sgodda M, Weiβmann R, Reichl U, Steinemann D, Diekmann U, Huber NM, Oberbeck A, Cantz T, Kuss AW, Körner C, Schambach A, Rapp E, Buettner FF., Mol Cell Proteomics 15(4), 2016
PMID: 26785728
Synaptic roles for phosphomannomutase type 2 in a new Drosophila congenital disorder of glycosylation disease model.
Parkinson WM, Dookwah M, Dear ML, Gatto CL, Aoki K, Tiemeyer M, Broadie K., Dis Model Mech 9(5), 2016
PMID: 26940433
A mouse model of a human congenital disorder of glycosylation caused by loss of PMM2.
Chan B, Clasquin M, Smolen GA, Histen G, Powe J, Chen Y, Lin Z, Lu C, Liu Y, Cang Y, Yan Z, Xia Y, Thompson R, Singleton C, Dorsch M, Silverman L, Su SM, Freeze HH, Jin S., Hum Mol Genet 25(11), 2016
PMID: 27053713
Glycosylation and stem cells: Regulatory roles and application of iPSCs in the study of glycosylation-related disorders.
Berger RP, Dookwah M, Steet R, Dalton S., Bioessays 38(12), 2016
PMID: 27667795
Congenital disorders of glycosylation: a concise chart of glycocalyx dysfunction.
Hennet T, Cabalzar J., Trends Biochem Sci 40(7), 2015
PMID: 25840516
Lack of phosphomannomutase 2 affects Xenopus laevis morphogenesis and the non-canonical Wnt5a/Ror2 signalling.
Himmelreich N, Kaufmann LT, Steinbeisser H, Körner C, Thiel C., J Inherit Metab Dis 38(6), 2015
PMID: 26141167
The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein.
Yuste-Checa P, Gámez A, Brasil S, Desviat LR, Ugarte M, Pérez-Cerdá C, Pérez B., Hum Mutat 36(9), 2015
PMID: 26014514
Proteomic analysis of platelet N-glycoproteins in PMM2-CDG patients.
de la Morena-Barrio ME, Di Michele M, Lozano ML, Rivera J, Pérez-Dueñas B, Altisent C, Sevivas T, Vicente V, Jaeken J, Freson K, Corral J., Thromb Res 133(3), 2014
PMID: 24388574
Mannose supplements induce embryonic lethality and blindness in phosphomannose isomerase hypomorphic mice.
Sharma V, Nayak J, DeRossi C, Charbono A, Ichikawa M, Ng BG, Grajales-Esquivel E, Srivastava A, Wang L, He P, Scott DA, Russell J, Contreras E, Guess CM, Krajewski S, Del Rio-Tsonis K, Freeze HH., FASEB J 28(4), 2014
PMID: 24421398
Antisense mediated splicing modulation for inherited metabolic diseases: challenges for delivery.
Pérez B, Vilageliu L, Grinberg D, Desviat LR., Nucleic Acid Ther 24(1), 2014
PMID: 24506780
Mannose metabolism: more than meets the eye.
Sharma V, Ichikawa M, Freeze HH., Biochem Biophys Res Commun 453(2), 2014
PMID: 24931670
Understanding human glycosylation disorders: biochemistry leads the charge.
Freeze HH., J Biol Chem 288(10), 2013
PMID: 23329837
Insufficient ER-stress response causes selective mouse cerebellar granule cell degeneration resembling that seen in congenital disorders of glycosylation.
Sun L, Zhao Y, Zhou K, Freeze HH, Zhang YW, Xu H., Mol Brain 6(), 2013
PMID: 24305089
Successful prenatal mannose treatment for congenital disorder of glycosylation-Ia in mice.
Schneider A, Thiel C, Rindermann J, DeRossi C, Popovici D, Hoffmann GF, Gröne HJ, Körner C., Nat Med 18(1), 2012
PMID: 22157680
A zebrafish model of PMM2-CDG reveals altered neurogenesis and a substrate-accumulation mechanism for N-linked glycosylation deficiency.
Cline A, Gao N, Flanagan-Steet H, Sharma V, Rosa S, Sonon R, Azadi P, Sadler KC, Freeze HH, Lehrman MA, Steet R., Mol Biol Cell 23(21), 2012
PMID: 22956764
Improvement of dolichol-linked oligosaccharide biosynthesis by the squalene synthase inhibitor zaragozic acid.
Haeuptle MA, Welti M, Troxler H, Hülsmeier AJ, Imbach T, Hennet T., J Biol Chem 286(8), 2011
PMID: 21183681
Mouse models for congenital disorders of glycosylation.
Thiel C, Körner C., J Inherit Metab Dis 34(4), 2011
PMID: 21347588
Phosphomannose isomerase inhibitors improve N-glycosylation in selected phosphomannomutase-deficient fibroblasts.
Sharma V, Ichikawa M, He P, Scott DA, Bravo Y, Dahl R, Ng BG, Cosford ND, Freeze HH., J Biol Chem 286(45), 2011
PMID: 21949237
Metabolic manipulation of glycosylation disorders in humans and animal models.
Freeze HH, Sharma V., Semin Cell Dev Biol 21(6), 2010
PMID: 20363348
Molecular imaging of N-linked glycosylation suggests glycan biosynthesis is a novel target for cancer therapy.
Contessa JN, Bhojani MS, Freeze HH, Ross BD, Rehemtulla A, Lawrence TS., Clin Cancer Res 16(12), 2010
PMID: 20413434
Ontogeny of D-mannose transport and metabolism in rat small intestine.
Cano M, Ilundain AA., J Membr Biol 235(2), 2010
PMID: 20523973
Evolutionary history and functional diversification of phosphomannomutase genes.
Quental R, Moleirinho A, Azevedo L, Amorim A., J Mol Evol 71(2), 2010
PMID: 20661555
Molecular analysis of phosphomannomutase (PMM) genes reveals a unique PMM duplication event in diverse Triticeae species and the main PMM isozymes in bread wheat tissues.
Yu C, Li Y, Li B, Liu X, Hao L, Chen J, Qian W, Li S, Wang G, Bai S, Ye H, Qin H, Shen Q, Chen L, Zhang A, Wang D., BMC Plant Biol 10(), 2010
PMID: 20920368
Increase in ascorbate content of transgenic tobacco plants overexpressing the acerola (Malpighia glabra) phosphomannomutase gene.
Badejo AA, Eltelib HA, Fukunaga K, Fujikawa Y, Esaka M., Plant Cell Physiol 50(2), 2009
PMID: 19122187
Towards a therapy for phosphomannomutase 2 deficiency, the defect in CDG-Ia patients.
Freeze HH., Biochim Biophys Acta 1792(9), 2009
PMID: 19339218
Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides.
Haeuptle MA, Hennet T., Hum Mutat 30(12), 2009
PMID: 19862844
Mammalian phosphomannomutase PMM1 is the brain IMP-sensitive glucose-1,6-bisphosphatase.
Veiga-da-Cunha M, Vleugels W, Maliekal P, Matthijs G, Van Schaftingen E., J Biol Chem 283(49), 2008
PMID: 18927083
Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients.
Schollen E, Keldermans L, Foulquier F, Briones P, Chabas A, Sánchez-Valverde F, Adamowicz M, Pronicka E, Wevers R, Matthijs G., Mol Genet Metab 90(4), 2007
PMID: 17307006
The normal phenotype of Pmm1-deficient mice suggests that Pmm1 is not essential for normal mouse development.
Cromphout K, Vleugels W, Heykants L, Schollen E, Keldermans L, Sciot R, D'Hooge R, De Deyn PP, von Figura K, Hartmann D, Körner C, Matthijs G., Mol Cell Biol 26(15), 2006
PMID: 16847318

30 References

Daten bereitgestellt von Europe PubMed Central.

Structural characterization of native mouse zona pellucida proteins using mass spectrometry.
Boja ES, Hoodbhoy T, Fales HM, Dean J., J. Biol. Chem. 278(36), 2003
PMID: 12799386

AUTHOR UNKNOWN, 2005
The normal phenotype of Pmm1-deficient mice suggests that Pmm1 is not essential for normal mouse development.
Cromphout K, Vleugels W, Heykants L, Schollen E, Keldermans L, Sciot R, D'Hooge R, De Deyn PP, von Figura K, Hartmann D, Korner C, Matthijs G., Mol. Cell. Biol. 26(15), 2006
PMID: 16847318
Requirement of FGF-4 for postimplantation mouse development.
Feldman B, Poueymirou W, Papaioannou VE, DeChiara TM, Goldfarb M., Science 267(5195), 1995
PMID: 7809630

AUTHOR UNKNOWN, 2001
Identification and localization of two mouse phosphomannomutase genes, Pmm1 and Pmm2.
Heykants L, Schollen E, Grunewald S, Matthijs G., Gene 270(1-2), 2001
PMID: 11404002
Insights into the molecular basis of sperm-egg recognition in mammals.
Hoodbhoy T, Dean J., Reproduction 127(4), 2004
PMID: 15047932
HPRT-deficient (Lesch-Nyhan) mouse embryos derived from germline colonization by cultured cells.
Hooper M, Hardy K, Handyside A, Hunter S, Monk M., Nature 326(6110), 1987
PMID: 3821905
Congenital disorders of glycosylation: a booming chapter of pediatrics.
Jaeken J, Carchon H., Curr. Opin. Pediatr. 16(4), 2004
PMID: 15273506
Komrower Lecture. Congenital disorders of glycosylation (CDG): it's all in it!
Jaeken J., J. Inherit. Metab. Dis. 26(2-3), 2003
PMID: 12889654
Changes in oligosaccharide expression on plasma membrane of the mouse oocyte during fertilisation and early cleavage.
Kitamura K, Suganuma N, Takata K, Matsuyama K, Goto J, Furuhashi M, Kanayama N., Zygote 11(2), 2003
PMID: 12828418
Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli.
Kjaergaard S, Skovby F, Schwartz M., Eur. J. Hum. Genet. 7(8), 1999
PMID: 10602363
Abnormal synthesis of mannose 1-phosphate derived carbohydrates in carbohydrate-deficient glycoprotein syndrome type I fibroblasts with phosphomannomutase deficiency.
Korner C, Lehle L, von Figura K., Glycobiology 8(2), 1998
PMID: 9451026
Carbohydrate-deficient glycoprotein syndrome type 1: correction of the glycosylation defect by deprivation of glucose or supplementation of mannose.
Korner C, Lehle L, von Figura K., Glycoconj. J. 15(5), 1998
PMID: 9881752

AUTHOR UNKNOWN, 1989
A recessive deletion in the GlcNAc-1-phosphotransferase gene results in peri-implantation embryonic lethality.
Marek KW, Vijay IK, Marth JD., Glycobiology 9(11), 1999
PMID: 10536042
Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies.
Marquardt T, Denecke J., Eur. J. Pediatr. 162(6), 2003
PMID: 12756558
Genetic complementation reveals a novel human congenital disorder of glycosylation of type II, due to inactivation of the Golgi CMP-sialic acid transporter.
Martinez-Duncker I, Dupre T, Piller V, Piller F, Candelier JJ, Trichet C, Tchernia G, Oriol R, Mollicone R., Blood 105(7), 2004
PMID: 15576474
Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome).
Matthijs G, Schollen E, Pardon E, Veiga-Da-Cunha M, Jaeken J, Cassiman JJ, Van Schaftingen E., Nat. Genet. 16(1), 1997
PMID: 9140401
Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A.
Matthijs G, Schollen E, Van Schaftingen E, Cassiman JJ, Jaeken J., Am. J. Hum. Genet. 62(3), 1998
PMID: 9497260
Continuous mannose infusion in carbohydrate-deficient glycoprotein syndrome type I.
Mayatepek E, Schroder M, Kohlmuller D, Bieger WP, Nutzenadel W., Acta Paediatr. 86(10), 1997
PMID: 9350901
Mannose corrects altered N-glycosylation in carbohydrate-deficient glycoprotein syndrome fibroblasts.
Panneerselvam K, Freeze HH., J. Clin. Invest. 97(6), 1996
PMID: 8617881
Effect of mutations found in carbohydrate-deficient glycoprotein syndrome type IA on the activity of phosphomannomutase 2.
Pirard M, Matthijs G, Heykants L, Schollen E, Grunewald S, Jaeken J, van Schaftingen E., FEBS Lett. 452(3), 1999
PMID: 10386614
Kinetic properties and tissular distribution of mammalian phosphomannomutase isozymes.
Pirard M, Achouri Y, Collet JF, Schollen E, Matthijs G, Van Schaftingen E., Biochem. J. 339 ( Pt 1)(), 1999
PMID: 10085245
Mannose supplementation corrects GDP-mannose deficiency in cultured fibroblasts from some patients with Congenital Disorders of Glycosylation (CDG).
Rush JS, Panneerselvam K, Waechter CJ, Freeze HH., Glycobiology 10(8), 2000
PMID: 10929009

AUTHOR UNKNOWN, 2000
Increased recurrence risk in congenital disorders of glycosylation type Ia (CDG-Ia) due to a transmission ratio distortion.
Schollen E, Kjaergaard S, Martinsson T, Vuillaumier-Barrot S, Dunoe M, Keldermans L, Seta N, Matthijs G., J. Med. Genet. 41(11), 2004
PMID: 15520415
The molecular foundations of the maternal to zygotic transition in the preimplantation embryo.
Schultz RM., Hum. Reprod. Update 8(4), 2002
PMID: 12206467
Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I.
Van Schaftingen E, Jaeken J., FEBS Lett. 377(3), 1995
PMID: 8549746
Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder.
Wu X, Steet RA, Bohorov O, Bakker J, Newell J, Krieger M, Spaapen L, Kornfeld S, Freeze HH., Nat. Med. 10(5), 2004
PMID: 15107842
Export

Markieren/ Markierung löschen
Markierte Publikationen

Open Data PUB

Web of Science

Dieser Datensatz im Web of Science®
Quellen

PMID: 16847317
PubMed | Europe PMC

Suchen in

Google Scholar