Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking

A Dominant Heterozygous Mutation in COG4 Causes Saul–Wilson Syndrome, a Primordial Dwarfism, and Disrupts Zebrafish Development via Wnt Signaling

(2021) Zhi-Jie Xia et al.   Frontiers in Cell and Developmental Biology

Phenotypic expansion illuminates multilocus pathogenic variation

(2018) Ender Karaca et al.   GENETICS IN MEDICINE

A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation

(2018) Carlos R. Ferreira et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

(2017) Jennifer E. Posey et al.   NEW ENGLAND JOURNAL OF MEDICINE

Molecular architecture of the complete COG tethering complex

(2016) Jun Yong Ha et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Molecular architecture of the complete COG tethering complex

(2016) Jun Yong Ha et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

(2015) Nara Sobreira et al.   HUMAN MUTATION

Polarized transport in the Golgi apparatus

(2015) Akihiko Nakano   NATURE

Coordinated regulation of bidirectional COPI transport at the Golgi by CDC42

(2015) Seung-Yeol Park et al.   NATURE

Defects in the COG complex and COG-related trafficking regulators affect neuronal Golgi function

(2015) Leslie K. Climer et al.   Frontiers in Neuroscience

Solving Glycosylation Disorders: Fundamental Approaches Reveal Complicated Pathways

(2014) Hudson H. Freeze et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations inCOG2encoding a subunit of the conserved oligomeric golgi complex cause a congenital disorder of glycosylation

(2014) H. Kodera et al.   CLINICAL GENETICS

Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation

(2010) J. Lubbehusen et al.   HUMAN MOLECULAR GENETICS

Identification of the first COG–CDG patient of Indian origin

(2010) Bobby G. Ng et al.   MOLECULAR GENETICS AND METABOLISM

Molecular organization of the COG vesicle tethering complex

(2010) Joshua A Lees et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation

(2009) P. Paesold-Burda et al.   HUMAN MOLECULAR GENETICS

Golgi function and dysfunction in the first COG4-deficient CDG type II patient

(2009) Ellen Reynders et al.   HUMAN MOLECULAR GENETICS