Perspectives on Glycosylation and Its Congenital Disorders

被引：185

作者：

Ng, Bobby G. ^{[1
]}

Freeze, Hudson H. ^{[1
]}

机构：

[1] Sanford Burnham Prebys Med Discovery Inst, Human Genet Program, La Jolla, CA 92037 USA

来源：

TRENDS IN GENETICS | 2018年 / 34卷 / 06期

基金：

美国国家卫生研究院;

关键词：

DE-NOVO MUTATIONS; ONSET EPILEPTIC ENCEPHALOPATHIES; YEAST MUTANTS DEFICIENT; GALACTOSE SUPPLEMENTATION; ABNORMAL GLYCOSYLATION; RIBITOL-PHOSPHATE; PIGA MUTATIONS; CRISPR SCREEN; HOST FACTORS; DYSTROGLYCAN;

D O I：

10.1016/j.tig.2018.03.002

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学];

摘要：

Congenital disorders of glycosylation (CDG) are a rapidly expanding group of metabolic disorders that result from abnormal protein or lipid glycosylation. They are often difficult to clinically diagnose because they broadly affect many organs and functions and lack clinical uniformity. However, recent technological advances in next-generation sequencing have revealed a treasure trove of new genetic disorders, expanded the knowledge of known disorders, and showed a critical role in infectious diseases. More comprehensive genetic tools specifically tailored for mammalian cell-based models have revealed a critical role for glycosylation in pathogen-host interactions, while also identifying new CDG susceptibility genes. We highlight recent advancements that have resulted in a better understanding of human glycosylation disorders, perspectives for potential future therapies, and mysteries for which we continue to seek new insights and solutions.

引用

页码：466 / 476

页数：11

共 106 条

[1]

De novo mutations in epileptic encephalopathies [J].

Allen, Andrew S. ;

Berkovic, Samuel F. ;

Cossette, Patrick ;

Delanty, Norman ;

Dlugos, Dennis ;

Eichler, Evan E. ;

Epstein, Michael P. ;

Glauser, Tracy ;

Goldstein, David B. ;

Han, Yujun ;

Heinzen, Erin L. ;

Hitomi, Yuki ;

Howell, Katherine B. ;

Johnson, Michael R. ;

Kuzniecky, Ruben ;

Lowenstein, Daniel H. ;

Lu, Yi-Fan ;

Madou, Maura R. Z. ;

Marson, Anthony G. ;

Mefford, Heather C. ;

Nieh, Sahar Esmaeeli ;

O'Brien, Terence J. ;

Ottman, Ruth ;

Petrovski, Slave ;

Poduri, Annapurna ;

Ruzzo, Elizabeth K. ;

Scheffer, Ingrid E. ;

Sherr, Elliott H. ;

Yuskaitis, Christopher J. ;

Abou-Khalil, Bassel ;

Alldredge, Brian K. ;

Bautista, Jocelyn F. ;

Berkovic, Samuel F. ;

Boro, Alex ;

Cascino, Gregory D. ;

Consalvo, Damian ;

Crumrine, Patricia ;

Devinsky, Orrin ;

Dlugos, Dennis ;

Epstein, Michael P. ;

Fiol, Miguel ;

Fountain, Nathan B. ;

French, Jacqueline ;

Friedman, Daniel ;

Geller, Eric B. ;

Glauser, Tracy ;

Glynn, Simon ;

Haut, Sheryl R. ;

Hayward, Jean ;

Helmers, Sandra L. .

NATURE, 2013, 501 (7466) :217-+

[2]

Renal involvement in PMM2-CDG, a mini-review [J].

Altassan, Ruqaiah ;

Witters, Peter ;

Saifudeen, Zubaida ;

Quelhas, Dulce ;

Jaeken, Jaak ;

Levtchenko, Elena ;

Cassiman, David ;

Morava, Eva .

MOLECULAR GENETICS AND METABOLISM, 2018, 123 (03) :292-296

[3]

On the frequency of protein glycosylation, as deduced from analysis of the SWISS-PROT database [J].

Apweiler, R ;

Hermjakob, H ;

Sharon, N .

BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS, 1999, 1473 (01) :4-8

[4]

Enterovirus D68 receptor requirements unveiled by haploid genetics [J].

Baggen, Jim ;

Thibaut, Hendrik Jan ;

Staring, Jacqueline ;

Jae, Lucas T. ;

Liu, Yue ;

Guo, Hongbo ;

Slager, Jasper J. ;

de Bruin, Jost W. ;

van Vliet, Arno L. W. ;

Blomen, Vincent A. ;

Overduin, Pieter ;

Sheng, Ju ;

de Haan , Cornelis A. M. ;

de Vries, Erik ;

Meijer, Adam ;

Rossmann, Michael G. ;

Brummelkamp, Thijn R. ;

van Kuppeveld, Frank J. M. .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2016, 113 (05) :1399-1404

[5]

A Systematic Mammalian Genetic Interaction Map Reveals Pathways Underlying Ricin Susceptibility [J].

Bassik, Michael C. ;

Kampmann, Martin ;

Lebbink, Robert Jan ;

Wang, Shuyi ;

Hein, Marco Y. ;

Poser, Ina ;

Weibezahn, Jimena ;

Horlbeck, Max A. ;

Chen, Siyuan ;

Mann, Matthias ;

Hyman, Anthony A. ;

LeProust, Emily M. ;

McManus, Michael T. ;

Weissman, Jonathan S. .

CELL, 2013, 152 (04) :909-922

[6]

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

[7]

Early Frameshift Mutation in PIGA Identified in a Large XLID Family Without Neonatal Lethality [J].

Belet, Stefanie ;

Fieremans, Nathalie ;

Yuan, Xuan ;

Van Esch, Hilde ;

Verbeeck, Jelle ;

Ye, Zhaohui ;

Cheng, Linzhao ;

Brodsky, Brett R. ;

Hu, Hao ;

Kalscheuer, Vera M. ;

Brodsky, Robert A. ;

Froyen, Guy .

HUMAN MUTATION, 2014, 35 (03) :350-355

[8]

Bertozzi CR., 2009, Essentials of Glycobiology, P23

[9]

Biosynthesis of lipid-linked oligosaccharides in Saccharomyces cerevisiae -: Alg13p AND Alg14p form a complex required for the formation of GlcNAc2-PP-dolichol [J].

Bickel, T ;

Lehle, L ;

Schwarz, M ;

Aebi, M ;

Jakob, CA .

JOURNAL OF BIOLOGICAL CHEMISTRY, 2005, 280 (41) :34500-34506

[10]

X Chromosome Exome Sequencing Reveals a Novel ALG13 Mutation in a Nonsyndromic Intellectual Disability Family With Multiple Affected Male Siblings [J].

Bissar-Tadmouri, Nesrine ;

Donahue, Whithey L. ;

Al-Gazali, Lihadh ;

Nelson, Stanley F. ;

Bayrak-Toydemir, Pinar ;

Kantarci, Sibel .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2014, 164 (01) :164-169

← 1 2 3 4 5 6 7 8 9 10 →