Protein   Disorder   Associated neurological manifestation   References
COG PROTEINS
COG1  CDG-IIg (COG1-CDG)  Cerebral atrophy, developmental delay, hypotonia  Foulquier et al., 2006
COG2  CDG-II (COG2-CDG)  Developmental delay, epilepsy  Kodera et al., 2015
COG4  CDG-IIj (COG4-CDG)  Developmental delay, epilepsy, hypotonia, lack of speech, nystagmus  Reynders et al., 2009; Ng et al., 2011
COG5  CDG-IIi (COG5-CDG)  Ataxia, cerebral atrophy, developmental delay, epilepsy, hypotonia  Paesold-Burda et al., 2009; Fung et al., 2012; Rymen et al., 2012
COG6  CDG-IIl (COG6-CDG) Shaheen syndrome (SHNS)  Ataxia, cerebral atrophy, developmental delay, epilepsy, hypotonia, optic nerve atrophy, sensoneural hearing loss Intellectual disability  Lübbehusen et al., 2010; Huybrechts et al., 2012; Shaheen et al., 2013; Rymen et al., 2015
COG7  CDG-IIe (COG7-CDG)  Cerebral atrophy, developmental delay, epilepsy, hypotonia  Wu et al., 2004; Morava et al., 2007; Ng et al., 2007; Zeevaert et al., 2009a
COG8  CDG-IIh (COG8-CDG)  Cerebral atrophy, developmental delay, hypotonia  Foulquier et al., 2007; Kranz et al., 2007
SNARE PROTEINS
Ykt6  Parkinson's Disease  Trafficking defects and cytotoxicity in vitro in NRK and PC12 cell lines  Hasegawa et al., 2003, 2004
Sec22b  Parkinson's Disease  Trafficking defects and cytotoxicity in vitro in NRK and PC12 cell lines  Hasegawa et al., 2003, 2004
STX5  Parkinson's Disease Alzheimer's Disease  Trafficking defects and cytotoxicity in vitro in NRK and PC12 cell lines Regulates processing of APP in PC12, HeLa, COS-7, and NG108-15 cell lines and primary cultures of rat hippocampal neurons  Suga et al., 2005b; Thayanidhi et al., 2010; Rendón et al., 2013; Suga et al., 2015
SNAP29  CEDNIK-Neuro-cutaneous syndrome  Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Keratoderma  Sprecher et al., 2005; Fuchs-Telem et al., 2011
GS27  Myoclonus epilepsy/early ataxia Parkinson's Disease  Action myoclonus, mild cerebral atrophy, and early ataxia Trafficking defects and cytotoxicity in vitro in NRK and PC12 cell lines  Thayanidhi et al., 2010; Corbett et al., 2011
GS28  Neurodegeneration  Retinal degeneration in in vivo Drosophila photoreceptors  Rosenbaum et al., 2014
Vti1a/b  Neurodegeneration  Perinatal lethality in double knockouts in an in vivo mouse model. Neuronal axon tracks missing, reduced in size or misrouted  Kunwar et al., 2011; Walter et al., 2014
RAB PROTEINS
Rab1a  Parkinson's Disease  Neuroprotective in C. elegans, D. melanogaster and primary rat neuron cultures. Rescue from the neurotoxic effects of α-synuclein  Cooper et al., 2006; Gitler et al., 2008
Rab1b  Alzheimer's Disease  Dominant negative mutant of Rab1b blocks trafficking of APP and decreases the secretion of Aβ  Dugan et al., 1995
Rab2  Parkinson's Disease  Reduced expression of Rab2 can rescue Golgi fragmentation in PD models  Rendón et al., 2013
Rab4a  Neumann-Pick disease Alzheimer's Disease Down's syndrome  Reduced Rab4-dependent recycling in vitro in Neumann-Pick type A and type C fibroblasts. Postmortem samples: increased Rab4 in patients with AD and mild cognitive disorder Aβ partially co-localizes with Rab4 in a mouse model of Down Syndrome  Cataldo et al., 2000; Choudhury et al., 2004; Arriagada et al., 2010; Ginsberg et al., 2010
Rab6a  Alzheimer's Disease  Dominant negative mutant of Rab6 increases the secretion of soluble APP and decreased Aβ secretion  McConlogue et al., 1996