Inventaire - your friends and communities are your best library

Golgi post-translational modifications and associated diseases

author

Sven Potelle

published in: Journal of Inherited Metabolic Disease

date of publication: 2015-05-13

Cites articles 94

Date

Title

Authors

2015-02

Identification and functional analysis of a SLC33A1: c.339T>G (p.Ser113Arg) variant in the original SPG42 family

Changshun Shao
2015-01-28

Tyrosine sulfation as a protein post-translational modification
2014-02-01

Solving glycosylation disorders: fundamental approaches reveal complicated pathways

Jessica X. Chong, Hudson H. Freeze
2014-05-15

Congenital disorders of glycosylation: new defects and still counting
2014-02-24

Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.

Manfred Wuhrer, Ann Saada, Paul J Hensbergen, Agnes L Hipgrave Ederveen, Simon Edvardson, Dagmar Procházková, Nina Ondrušková, Gert Matthijs, Joris A Veltman
2014-01-01

Human glycosylation disorders
2014-12-30

Disease mutations in CMP-sialic acid transporter SLC35A1 result in abnormal α-dystroglycan O-mannosylation, independent from sialic acid

Christian Büll, Torben Heise, Hans van Bokhoven
2014-05-24

Mutations in COG2 encoding a subunit of the conserved oligomeric golgi complex cause a congenital disorder of glycosylation

Shinji Saitoh, Yoshinori Tsurusaki, Hirotomo Saitsu
2013-02-01

The Angelman syndrome protein Ube3a/E6AP is required for Golgi acidification and surface protein sialylation

Cyril Hanus
2013-09-12

Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis.

Simon Edvardson, Domenico Garozzo
2013-01-17

Understanding human glycosylation disorders: biochemistry leads the charge

Hudson H. Freeze
2013-04-01

The acetyl-CoA transporter family SLC33.
2013-10-15

De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy

Shuji Mizumoto, Mitsuhiro Kato, Yoshinori Tsurusaki, Hirotomo Saitsu
2013-07-19

Intellectual disability and bleeding diathesis due to deficient CMP--sialic acid transport
2013-04-01

Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation

Martin Kircher, Jay Shendure, Jessica X. Chong, Emily H Turner, Rodney D. Gilbert, Marc C. Patterson, Hudson H. Freeze, University of Washington Center for Mendelian Genomics, Deborah A Nickerson, Michael J Bamshad, Kati J Buckingham, Kimiyo Raymond, Alexey Eroshkin
2013-12

The site-2 protease
2013-12-12

MAN1B1 deficiency: an unexpected CDG-II

Haluk Topaloglu, Philippa B Mills, François Foulquier, D Quelhas, Esmeralda G. Martins, Domenico Garozzo
2013-05-31

Congenital disorders of glycosylation. Part I. Defects of protein N-glycosylation

Bogdan Cylwik, Lech Chrostek, Marcin Naklicki, Ewa Gruszewska
2013-09-19

Congenital disorders of glycosylation. Part II. Defects of protein O-glycosylation

Bogdan Cylwik, Lech Chrostek, Ewa Gruszewska
2012-08-30

A missense mutation in the MBTPS2 gene underlies the X-linked form of Olmsted syndrome

Daniel S Poon, Vincent Plagnol, David P. Kelsell
2012-02-09

Diseases of glycosylation beyond classical congenital disorders of glycosylation
2012-12-20

Human calmodulin methyltransferase: expression, activity on calmodulin, and Hsp90 dependence

Eli Hershkovitz
2012-02-27

Re'COG'nition at the Golgi

Daniel Ungar
2012-05-15

Glycosylation disorders of membrane trafficking

François Foulquier
2012-06-01

Secreted kinase phosphorylates extracellular proteins that regulate biomineralization

Nick Grishin, Carolyn Worby, Jack E. Dixon, Sandra E Wiley, Vincent S. Tagliabracci
2011-12-23

Mannose-6-phosphate pathway: a review on its role in lysosomal function and dysfunction

Maria João Prata
2011-11-01

Models for Golgi traffic: a critical assessment

Alberto Luini
2011-03-08

Congenital disorders of glycosylation (CDG): it's (nearly) all in it!
2011-01-01

Genetics of speech and language disorders
2011-07-29

Regulation of O-acetylation of sialic acids by sialate-O-acetyltransferase and sialate-O-acetylesterase activities in childhood acute lymphoblastic leukemia
2011-04-01

A novel mutation in MBTPS2 causes a broad phenotypic spectrum of ichthyosis follicularis, atrichia, and photophobia syndrome in a large Chinese family.
2011-07

NatF contributes to an evolutionary shift in protein N-terminal acetylation and is important for normal chromosome segregation

Joël Vandekerckhove, Kris Gevaert, Petra Van Damme, Kristine Hole, Kenny Helsens, Rui G Martinho, Thomas Arnesen

Article - wd:Q34476104

Welcome to Inventaire

the library of your friends and communities

learn more