Understanding Human Glycosylation Disorders: Biochemistry Leads the Charge

被引：157

作者：

Freeze, Hudson H. ^{[1
]}

机构：

[1] Sanford Burnham Med Res Inst, Genet Dis Program, La Jolla, CA 92037 USA

来源：

JOURNAL OF BIOLOGICAL CHEMISTRY | 2013年 / 288卷 / 10期

基金：

美国国家卫生研究院;

关键词：

PHOSPHOMANNOSE ISOMERASE DEFICIENCY; PHOSPHATE-MANNOSE SYNTHASE; CONGENITAL DISORDERS; ZEBRAFISH MODEL; O-MANNOSYLATION; MUTATIONS; GENE; GLYCOSYLPHOSPHATIDYLINOSITOL; DOLICHOL; HYPERPHOSPHATASIA;

D O I：

10.1074/jbc.R112.429274

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Nearly 70 inherited human glycosylation disorders span a breathtaking clinical spectrum, impacting nearly every organ system and launching a family-driven diagnostic odyssey. Advances in genetics, especially next generation sequencing, propelled discovery of many glycosylation disorders in single and multiple pathways. Interpretation of whole exome sequencing results, insights into pathological mechanisms, and possible therapies will hinge on biochemical analysis of patient-derived materials and animal models. Biochemical diagnostic markers and readouts offer a physiological context to confirm candidate genes. Recent discoveries suggest novel perspectives for textbook biochemistry and novel research opportunities. Basic science and patients are the immediate beneficiaries of this bidirectional collaboration.

引用

页码：6936 / 6945

页数：10

共 82 条

[1] A method and server for predicting damaging missense mutations [J].

Adzhubei, Ivan A. ;

Schmidt, Steffen ;

Peshkin, Leonid ;

Ramensky, Vasily E. ;

Gerasimova, Anna ;

Bork, Peer ;

Kondrashov, Alexey S. ;

Sunyaev, Shamil R. .

NATURE METHODS, 2010, 7 (04) :248-249

[2]

Aebi M, 1999, Glycoconj J, V16, P669

[3] Brief report: Targeted therapy for inherited GPI deficiency. [J].

Almeida, Antonio M. ;

Murakami, Yoshiko ;

Baker, Alastair ;

Maeda, Yusuke ;

Roberts, Irene A. G. ;

Kinoshita, Taroh ;

Layton, D. Mark ;

Karadimitris, Anastasios .

NEW ENGLAND JOURNAL OF MEDICINE, 2007, 356 (16) :1641-1647

[4] Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency [J].

Almeida, Antonio M. ;

Murakami, Yoshiko ;

Layton, D. Mark ;

Hillmen, Peter ;

Sellick, Gabrielle S. ;

Maeda, Yusuke ;

Richards, Stephen ;

Patterson, Scott ;

Kotsianidis, Ioannis ;

Mollica, Luigina ;

Crawford, Dorothy H. ;

Baker, Alastair ;

Ferguson, Michael ;

Roberts, Irene ;

Houlston, Richard ;

Kinoshita, Taroh ;

Karadimitris, Anastasios .

NATURE MEDICINE, 2006, 12 (07) :846-851

[5] A New Face and New Challenges for Online Mendelian Inheritance in Man (OMIM®) [J].

Amberger, Joanna ;

Bocchini, Carol ;

Hamosh, Ada .

HUMAN MUTATION, 2011, 32 (05) :564-567

[6] DPAGT1-CDG: Report of a patient with fetal hypokinesia phenotype [J].

Arroyo Carrera, Ignacio ;

Matthijs, Gert ;

Perez, Belen ;

Perez Cerda, Celia .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2012, 158A (08) :2027-2030

[7] DPM1, the catalytic subunit of dolichol-phosphate mannose synthase, is tethered to and stabilized on the endoplasmic reticulum membrane by DPM3 [J].

Ashida, H ;

Maeda, Y ;

Kinoshita, T .

JOURNAL OF BIOLOGICAL CHEMISTRY, 2006, 281 (02) :896-904

[8] DPM2-CDG: A muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy [J].

Barone, Rita ;

Aiello, Chiara ;

Race, Valerie ;

Morava, Eva ;

Foulquier, Francois ;

Riemersma, Moniek ;

Passarelli, Chiara ;

Concolino, Daniela ;

Carella, Massimo ;

Santorelli, Filippo ;

Vleugels, Wendy ;

Mercuri, Eugenio ;

Garozzo, Domenico ;

Sturiale, Luisa ;

Messina, Sonia ;

Jaeken, Jaak ;

Fiumara, Agata ;

Wevers, Ron A. ;

Bertini, Enrico ;

Matthijs, Gert ;

Lefeber, Dirk J. .

ANNALS OF NEUROLOGY, 2012, 72 (04) :550-558

[9] Mutations in DPAGT1 Cause a Limb-Girdle Congenital Myasthenic Syndrome with Tubular Aggregates [J].

Belaya, Katsiaryna ;

Finlayson, Sarah ;

Slater, Clarke R. ;

Cossins, Judith ;

Liu, Wei Wei ;

Maxwell, Susan ;

McGowan, Simon J. ;

Maslau, Siarhei ;

Twigg, Stephen R. F. ;

Walls, Timothy J. ;

Pascual, Samuel I. Pascual ;

Palace, Jacqueline ;

Beeson, David .

AMERICAN JOURNAL OF HUMAN GENETICS, 2012, 91 (01) :193-201

[10] Transgenic Overexpression of LARGE Induces α-Dystroglycan Hyperglycosylation in Skeletal and Cardiac Muscle [J].

Brockington, Martin ;

Torelli, Silvia ;

Sharp, Paul S. ;

Liu, Ke ;

Cirak, Sebahattin ;

Brown, Susan C. ;

Wells, Dominic J. ;

Muntoni, Francesco .

PLOS ONE, 2010, 5 (12)

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