MAO-A mutations and Brunner Syndrome
- Brunner HG et al. 1993. Abnormal behavior associated with a point mutation in the structural gene for monoamine oxidase A. Science 262: 578-580.
- Palmer EE et al. 2016. New insights into Brunner Syndrome and potential for targeted therapy. Clin Genet 89: 120-127.
- Peters TMA et al. 2021. Monoamine oxidase A activity in fibroblasts as a functional confirmation of MAOA variants. JIMD Reports 58: 114–121.
- Piton A et al. 2014. 20 ans apre`s: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition. Eur J Hum Genet 22: 776-783.
Case Studies for MAO A/B deletions
- O’Leary RE et al. 2012. De novo microdeletion of Xp11.3 exclusively encompassing the monoamine oxidase A and B genes in a male infant with episodic hypotonia: A genomics approach to personalized medicine. Eur J Med Genet 55: 349-353.
- Saito M et al. 2014. MAOA/B deletion syndrome in male siblings with severe developmental delay and sudden loss of muscle tonus. Brain Dev 36: 64-69.
- Whibley A et al. 2010. Deletion of MAOA and MAOB in a male patient causes severe developmental delay, intermittent hypotonia and stereotypical hand movements. Eur J Hum Genet 18: 1095-1099.
Mouse models for MAO A/B Deficiency
- Bortolato M and Shih JC 2011. Behavioral outcomes of monoamine oxidase deficiency: Preclinical and clinical evidence. Int Rev Neurobiol 100: 13–42.
- Bortolato M et al. 2013. Monoamine oxidase A and A/B knockout mice display autistic-like features. Intl J Neuropsychopharmacology, 16: 869-888.
- Cases O et al. 1995. Aggressive behavior and altered amounts of brain serotonin and norepinephrine in mice lacking MAOA. Science 268: 1763-1766.
- Chen K et al. 2007. Forebrain-specific expression of monoamine oxidase A reduces neurotransmitter levels, restores the brain structure, and rescues aggressive behavior in monoamine oxidase A-deficient mice. J Biol Chem 282: 115-123.
- Godar SC et al. 2014. The aggression and behavioral abnormalities associated with monoamine oxidase A deficiency are rescued by acute inhibition of serotonin reuptake. J Psychiatr Res 56: 1–9.
- Shih JC and Chen K 1999. MAO-A and-B gene knock-out mice exhibit distinctly different behavior. Neurobiology (Budapest, Hungary) 7: 235-246.
- Shih JC et al. 1999 - Monoamine Oxidase: From Genes to Behavior. Annu Rev Neurosci 22: 197–217.
- Wang CC et al. 2013. Monoamine oxidases in development. Cell Mol Life Sci 70: 599–63
Brain Organoid
- Adams JW et al. 2019. Brain Organoids as Tools for Modeling Human Neurodevelopmental Disorders. Physiology 34: 365–375.
- Dixon TA and Muotri AR 2023. Advancing preclinical models of psychiatric disorders with human brain organoid cultures. Mol Psychiatry 28: 83–95.
- Guy B et al. 2022. Human neural organoids: Models for developmental neurobiology and disease. Dev Biol 478: 102–121.
- Marchetto MN et al. 2010. A model for neural development & treatment of Rett syndrome using human induced pluripotent stem cells. Cell 143: 527–539.
- Paşca AM et al. 2015. Functional cortical neurons and astrocytes from human pluripotent stem cells in 3D culture. Nat Meth 12: 671–678.
- Pașca SP 2018. The rise of three-dimensional human brain cultures. Nat Rev 553: 437-445.
- Setia H and Muotri AR 2019. Brain organoids as a model system for human neurodevelopment and disease. Semin Cell Dev Biol 95: 93–97.
- Trujillo CA & Muotri AR 2018. Brain organoids and the study of neurodevelopment. Trends Mol Med. 24: 982–990.
MAO A uVNTR studies
- Abeykoon MR et al. 2024. The Tale of Warrior Gene: The MAOA upstream Variable Number Tandem Repeat (MAOA-uVNTR) Polymorphism and Its Role in Shaping Aggressive and Violent Behaviour. Asian J Biochem, Genet Mol Biol 16: 1-20.
- Armstrong TA et al. 2014. Monoamine oxidase A genotype, childhood adversity, and criminal behavior in an incarcerated sample. Psychiatric Genet 24: 164-17.
- Chester DS et al. 2015. Monoamine Oxidase A (MAOA) Genotype Predicts Greater Aggression Through Impulsive Reactivity to Negative Affect. Behav Brain Res 283: 97–101.
- Cohen IL et al. 2003. Association of autism severity with a monoamine oxidase A functional polymorphism. Clin Genet 64: 190–197.
- Davis LK et al. 2008. Cortical Enlargement in Autism is Associated with a Functional VNTR in the Monoamine Oxidase A Gene. Am J Med Genet Part B 147B: 1145–1151.
- Fergusson DM et al. 2011. MAOA, abuse exposure and antisocial behaviour: 30-year longitudinal study. Brit J Psychiat 198: 457–463.
- Godar SC et al. 2016. The role of monoamine oxidase A in aggression: current translational developments and future challenges. Prog Neuropsychopharmacol Biol Psychiat 69: 90–100.
- Gu F et al. 2017. Monoamine oxidase-A and B activities in the cerebellum and frontal cortex of children and young adults with autism. J Neuroscience Res 95: 1965-1972.
- Sabol SZ et al. 1998. A functional polymorphism in the monoamine oxidase A gene promoter. Hum Genet 103: 273–279.
- Stetler DA et al. 2014. Association of low-activity MAOA allelic variants with violent crime in incarcerated offenders. J Psychiatric Res 58: 69-75.