The Effects of Neurological Disorder-Related Codon Variations of ABCA13 on the Function of the ABC Protein

Tomioka, Maiko; Toda, Yoshinobu; Kurisu, Junko; Kimura, Yasuhisa; Kengaku, Mineko; Ueda, Kazumitsu

doi:10.1271/bbb.120563

Cited by 11 publications

(11 citation statements)

References 19 publications

(17 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In a control group of 335 Japanese macaques, no CNV was identified in ABCA13 . This gene is hypothesized to code a lipid transporter ( 11 ) and could be a susceptibility factor not only for schizophrenia and bipolar disorder ( 12 ) but also for ASD ( 13 , 14 ) (Supplementary Text). In monkeys N and S, no CNV associated with psychiatric disorders was detected.…”

Section: Resultsmentioning

confidence: 99%

Single-neuron and genetic correlates of autistic behavior in macaque

Yoshida

Kushima

et al. 2016

Sci. Adv.

View full text Add to dashboard Cite

show abstract

Section: Resultsmentioning

confidence: 99%

Single-neuron and genetic correlates of autistic behavior in macaque

Yoshida

Kushima

et al. 2016

Sci. Adv.

View full text Add to dashboard Cite

show abstract

“…The mammalian ABCA protein family generally carries two transmembrane domains (TMDs), each of which includes six transmembrane domains and two cytoplasmic nucleotide-binding domains (NBDs) that contain the characteristic ATP-binding Walker A and B motifs. ABCA13 has the typical structure of ABCA family proteins, consisting of two TMDs and two NBDs, sharing strong similarities with some of the ABCA proteins, ABCA12 with 59%, ABCA1 with 51%, ABCA4 with 51%, and ABCA7 with 50% [38]. The transport substrates for ABCA12 are reportedly lipids, glucosylceramide, cholesterol, and phosphatidylcholine (PC) for ABCA1, N-retinylidene phosphatidyl ethanol amine for ABCA4, and PC for ABCA7.…”

Section: Syndromic Forms Of Asd and Asd-associated Genesmentioning

confidence: 99%

Autism Spectrum Disorder-Related Syndromes: Modeling with Drosophila and Rodents

Ueoka

Pham²,

Matsumoto

et al. 2019

IJMS

View full text Add to dashboard Cite

Whole exome analyses have identified a number of genes associated with autism spectrum disorder (ASD) and ASD-related syndromes. These genes encode key regulators of synaptogenesis, synaptic plasticity, cytoskeleton dynamics, protein synthesis and degradation, chromatin remodeling, transcription, and lipid homeostasis. Furthermore, in silico studies suggest complex regulatory networks among these genes. Drosophila is a useful genetic model system for studies of ASD and ASD-related syndromes to clarify the in vivo roles of ASD-associated genes and the complex gene regulatory networks operating in the pathogenesis of ASD and ASD-related syndromes. In this review, we discuss what we have learned from studies with vertebrate models, mostly mouse models. We then highlight studies with Drosophila models. We also discuss future developments in the related field.

show abstract

“…In addition to rare genetic variants, some researchers have also explored the relationship between common genetic variants in ABCA13 and the pathogenesis of schizophrenia. Tomioka et al reported that a single nucleotide polymorphism (SNP) (T4031A) in ABCA13 affect the function of ABCA13 in the brain, and might concern neurological disorder 22 . Chen and colleagues analyzed tag SNPs of ABCA13 in Han Chinese patients with schizophrenia and healthy controls 23 .…”

Section: Discussionmentioning

confidence: 99%

ATP-binding cassette transporter 13 mRNA expression level in schizophrenia patients

Chen

et al. 2020

Sci Rep

View full text Add to dashboard Cite

The objective of this study was to investigate the expression and clinical role of ATP-binding cassette transporter 13 (ABCA13) gene previously shown to be associated with schizophrenia (SZ) through Genome-wide association studies studies. Thirty-two first-episode drug-naive SZ patients and forty-eight age and gender-matched healthy controls were enrolled in this study. We measured ABCA13 mRNA expression levels using quantitative real-time PCR at baseline and 12 weeks after antipsychotic therapy. Moreover, clinical symptoms were measured by the Positive and Negative Syndrome Scale (PANSS) at baseline and 12-week follow-up. We found that ABCA13 mRNA levels were significantly lower in SZ patients compared with healthy controls at baseline. SZ patients’ symptoms were decreased, but ABCA13 mRNA levels were increased after 12 weeks antipsychotic therapy. In addition, there was a significant difference in ABCA13 mRNA levels among SZ patients at baseline and 12-week follow-up. The ABCA13 mRNA levels were not associated with age, BMI, years of education. Of the clinical symptoms measured, the ABCA13 mRNA levels were negatively associated with the PANSS scores at baseline and 12-week follow-up. The results indicated that the ABCA13 mRNA expression level is of interest, and upon further studies, it could be used as a biomarker for SZ treatment outcome.

show abstract

The Effects of Neurological Disorder-Related Codon Variations of ABCA13 on the Function of the ABC Protein

Cited by 11 publications

References 19 publications

Single-neuron and genetic correlates of autistic behavior in macaque

Single-neuron and genetic correlates of autistic behavior in macaque

Autism Spectrum Disorder-Related Syndromes: Modeling with Drosophila and Rodents

ATP-binding cassette transporter 13 mRNA expression level in schizophrenia patients

Contact Info

Product

Resources

About