PMC Links for Protein (Select 118026921) - PMC

Select item 50709051.

Classical galactosaemia: novel insights in IgG N-glycosylation and N-glycan biosynthesis

Ashwini Maratha, Henning Stockmann, Karen P Coss, M Estela Rubio-Gozalbo, Ina Knerr, Maria Fitzgibbon, Terri P McVeigh, Patricia Foley, Catherine Moss, Hugh-Owen Colhoun, Britt van Erven, Kelly Stephens, Peter Doran, Pauline Rudd, Eileen Treacy

Eur J Hum Genet. 2016 Jul; 24(7): 976–984. Published online 2016 Jan 6. doi: 10.1038/ejhg.2015.254

PMCID:: PMC5070905

Abstract Article PDF–2.0M

Select item 48821902.

Widespread expansion of protein interaction capabilities by alternative splicing

Xinping Yang, Jasmin Coulombe-Huntington, Shuli Kang, Gloria M. Sheynkman, Tong Hao, Aaron Richardson, Song Sun, Fan Yang, Yun A. Shen, Ryan R. Murray, Kerstin Spirohn, Bridget E. Begg, Miquel Duran-Frigola, Andrew MacWilliams, Samuel J. Pevzner, Quan Zhong, Shelly A. Wanamaker, Stanley Tam, Lila Ghamsari, Nidhi Sahni, Song Yi, Maria D. Rodriguez, Dawit Balcha, Guihong Tan, Michael Costanzo, Brenda Andrews, Charles Boone, Xianghong J. Zhou, Kourosh Salehi-Ashtiani, Benoit Charloteaux, Alyce A. Chen, Michael A. Calderwood, Patrick Aloy, Frederick P. Roth, David E. Hill, Lilia M. Iakoucheva, Yu Xia, Marc Vidal

Cell. Author manuscript; available in PMC 2017 Feb 11.

Published in final edited form as: Cell. 2016 Feb 11; 164(4): 805–817. doi: 10.1016/j.cell.2016.01.029

PMCID:: PMC4882190

Abstract Article PDF–1.9M

Select item 15693663.

Common variations in ALG9 are not associated with bipolar I disorder: a family-based study

Bora E Baysal, Joan E Willett-Brozick, Silviu-Alin Bacanu, Sevilla Detera-Wadleigh, Vishwajit L Nimgaonkar

Behav Brain Funct. 2006; 2: 25. Published online 2006 Jul 21. doi: 10.1186/1744-9081-2-25

PMCID:: PMC1569366

Abstract Article PDF–257K

Select item 11819984.

Identification and Functional Analysis of a Defect in the Human ALG9 Gene: Definition of Congenital Disorder of Glycosylation Type IL

Christian G. Frank, Claudia E. Grubenmann, Wafaa Eyaid, Eric G. Berger, Markus Aebi, Thierry Hennet

Am J Hum Genet. 2004 Jul; 75(1): 146–150. Published online 2004 May 17. doi: 10.1086/422367

PMCID:: PMC1181998

Abstract Article PDF–391K

Select item 66905835.

Whole genome sequencing and rare variant analysis in essential tremor families

Zagaa Odgerel, Shilpa Sonti, Nora Hernandez, Jemin Park, Ruth Ottman, Elan D. Louis, Lorraine N. Clark

PLoS One. 2019; 14(8): e0220512. Published online 2019 Aug 12. doi: 10.1371/journal.pone.0220512

PMCID:: PMC6690583

Abstract Article PDF–1.4M

Select item 47172126.

A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach–Nishimura skeletal dysplasia due to pathogenic variants in ALG9

Emma Tham, Erik A Eklund, Anna Hammarsjö, Per Bengtson, Stefan Geiberger, Kristina Lagerstedt-Robinson, Helena Malmgren, Daniel Nilsson, Gintautas Grigelionis, Peter Conner, Peter Lindgren, Anna Lindstrand, Anna Wedell, Margareta Albåge, Katarzyna Zielinska, Ann Nordgren, Nikos Papadogiannakis, Gen Nishimura, Giedre Grigelioniene

Eur J Hum Genet. 2016 Feb; 24(2): 198–207. Published online 2015 May 13. doi: 10.1038/ejhg.2015.91

PMCID:: PMC4717212

Abstract Article PDF–2.6M

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