TABLE 1.
WDR62 and JNK signaling in neurological disorders.
| Gene | Mutations | Types of disease | Phenotypes | References |
| WDR62 (NM_001083961.2) | c.28G > T (p.A10S) c.189G > T (p.E63D) c332G > C (pR111T) c.363delT (p.D112Mfs*5) c.390G > A (p.E130 E) c.535_536insA (p.M179fs*21) c.671G > C (p.W224S) c.668T > C (p.F223S) c.731C > T (p.S244L) c.797C > T (p.A266V) c.900C > A (p.C300*) c.1043 + 1G > A (p.S348Rfs*63) c.1102G > A (p.D368N) c.1143delA (p.H381PfsX48) c.1194G > A (p. W398*) c.1313G > A (p.R438H) c.1408C > T (p.Q470*) c.1531G > A (p.D511N) c.1576G > T (p.E526*) c.1576G > A (p.E526K) c.1605_1606insT (p.E536*) c.1684C > G (p.H562D) c.1942C > T (p.Q648*) c.1949G > A (p.R650H) c.2083delA (p.S696Afs*4) c.2115C > G (p.G705G) c.2195C > T (p.T732I) c.2413G > T (p.E805X) c.2472_2473delAG (p.Q918Gfs*18) c.2864-2867delACAG (p.D955Afs*112) c.2867 + 4_c2867 + 7delGGTG (p.S956Cfs*38) c.3232G > A (p.A1078T) c.3361delG (p. A1121Qfs*6) c.3503G > A (p.W1168*) c.3839_3855del (p.G1280Afs*21) c.3878C > A (p.A1293D) c.3936dupC (p.V1314Rfs*18) c.4241dupT (p.S1415Efs*40) | MCPH | Reduced brain size, pachygyria corpus, callosum abnormalities, schizencephaly, hippocampal and cerebellar hypoplasia | Miyamoto et al., 2017; Naseer et al., 2019; Rasool et al., 2020; Shohayeb et al., 2018; Zombor et al., 2019 |
| WDR62 (NM_001083961.2) | c.3406C > T (p.R1136*) | ARID | Impairment in cognitive ability and adaptive behavior | McSherry et al., 2018 |
| c.1949G > A (p.R650H) c.4354-4356AGA > TGG (p.R1452W) | ASD | Social disorders, speech disorders and awkward motor behavior | Wu et al., 2018 | |
| c.1821dupT (p.R608Sfs*26) c.2584G > A (p.G862S); c.2859_2862delACAG (p. N955Afs114*) | Epilepsy | Lissencephaly | Kolbjer et al., 2021; McDonell et al., 2014 | |
| JNK activity | Methods of detection | Tissue analyzed | Tissue analyzed | References |
| Up | Western blot immunostaining | Dopaminergic neurons from PD patients and MPTP mouse model of PD. | PD | Hunot et al., 2004 |
| Up | Western blot immunostaining | Ventral midbrain of MPTP mouse model | PD | Huang et al., 2016 |
| Up (JNK3) | Western blot | Cellular and mouse models of Huntington’s disease | HD | Morfini et al., 2009 |
| Up | Western blot | Striatal cultures co-expressing polyglutamine-expanded huntingtin | HD | Taylor et al., 2013 |
| Up | Western blot | Postmortem tissue of patients | Ischemic stroke | Mitsios et al., 2007 |
| Up (JNK/JNK3) | Western blot immunostaining | Brain and cerebrospinal fluid of patients | AD | Gourmaud et al., 2015 |
| Up | Western blot | LPS induce rat brains | Depression like behavior | Zhang et al., 2020 |
| Up | Western blot | Nucleus and the post-synaptic protein-enriched fraction of Ube3am–/p+ mice | AS | Musi et al., 2020 |
AD, Alzheimer’s disease; AS, Angelman syndrome; ARID, autosomal recessive intellectual disability; ASD, Autism spectrum disorder; HD, Huntington Disease; LPS, Lipopolysaccharide; MCPH, Autosomal recessive primary microcephaly; MPTP,1-methyl-4-phenyl-1,2,4,6-tetrahydropyridine; PD, Parkinson’s Disease. *means stop codon.