1: Ohtsuka H, Kawai S, Otsubo Y, Shimasaki T, Yamashita A, Aiba H. Metarhizium
robertsii COH1 functionally complements Schizosaccharomyces pombe Ecl family
proteins. J Gen Appl Microbiol. 2023 Oct 6. doi: 10.2323/jgam.2023.09.001. Epub
ahead of print. PMID: 37813640.
2: Seifert W, Kühnisch J, Maritzen T, Lommatzsch S, Hennies HC, Bachmann S, Horn
D, Haucke V. Cohen syndrome-associated protein COH1 physically and functionally
interacts with the small GTPase RAB6 at the Golgi complex and directs neurite
outgrowth. J Biol Chem. 2015 Feb 6;290(6):3349-58. doi: 10.1074/jbc.M114.608174.
Epub 2014 Dec 9. PMID: 25492866; PMCID: PMC4319006.
3: Seifert W, Kühnisch J, Maritzen T, Horn D, Haucke V, Hennies HC. Cohen
syndrome-associated protein, COH1, is a novel, giant Golgi matrix protein
required for Golgi integrity. J Biol Chem. 2011 Oct 28;286(43):37665-75. doi:
10.1074/jbc.M111.267971. Epub 2011 Aug 24. PMID: 21865173; PMCID: PMC3199510.
4: Athanasakis E, Fabretto A, Faletra F, Mocenigo M, Morgan A, Gasparini P. Two
Novel COH1 Mutations in an Italian Patient with Cohen Syndrome. Mol Syndromol.
2012 Jun;3(1):30-33. doi: 10.1159/000338816. Epub 2012 May 16. PMID: 22855652;
PMCID: PMC3398820.
5: Kondo I, Shimizu A, Asakawa S, Miyamoto K, Yamagata H, Tabara Y, Shimizu N.
COH1 analysis and linkage study in two Japanese families with Cohen syndrome.
Clin Genet. 2005 Mar;67(3):270-2. doi: 10.1111/j.1399-0004.2005.00396.x. PMID:
15691367.
6: Parri V, Katzaki E, Uliana V, Scionti F, Tita R, Artuso R, Longo I, Boschloo
R, Vijzelaar R, Selicorni A, Brancati F, Dallapiccola B, Zelante L, Hamel CP,
Sarda P, Lalani SR, Grasso R, Buoni S, Hayek J, Servais L, de Vries BB,
Georgoudi N, Nakou S, Petersen MB, Mari F, Renieri A, Ariani F. High frequency
of COH1 intragenic deletions and duplications detected by MLPA in patients with
Cohen syndrome. Eur J Hum Genet. 2010 Oct;18(10):1133-40. doi:
10.1038/ejhg.2010.59. Epub 2010 May 12. PMID: 20461111; PMCID: PMC2987453.
7: Seifert W, Holder-Espinasse M, Spranger S, Hoeltzenbein M, Rossier E, Dollfus
H, Lacombe D, Verloes A, Chrzanowska KH, Maegawa GH, Chitayat D, Kotzot D, Huhle
D, Meinecke P, Albrecht B, Mathijssen I, Leheup B, Raile K, Hennies HC, Horn D.
Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome. J Med
Genet. 2006 May;43(5):e22. doi: 10.1136/jmg.2005.039867. PMID: 16648375; PMCID:
PMC2564527.
