Author's response to reviews Title: Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with Intellectual Disability Authors:
نویسندگان
چکیده
Cecile Pagan ([email protected]) Hany Goubran-Botros ([email protected]) Karine Poirier ([email protected]) Anne Dumaine ([email protected]) Stephane Jamain ([email protected]) Sarah Moreno ([email protected]) Arjan de Brouwer ([email protected]) Hilde Van Esch ([email protected]) Richard Delorme ([email protected]) Jean-Marie Launay ([email protected]) Andreas Tzschach ([email protected]) Vera M Kalscheuer ([email protected]) Didier Lacombe ([email protected]) Sylvain Briault ([email protected]) Frédéric Laumonnier ([email protected]) Martine Raynaud ([email protected]) Bregje W van Bon ([email protected]) Marjolein H Willemsen ([email protected]) Marion Leboyer ([email protected]) Jamel Chelly ([email protected]) Thomas Bourgeron ([email protected])
منابع مشابه
Sequencing ASMT Identifies Rare Mutations in Chinese Han Patients with Autism
Melatonin is involved in the regulation of circadian and seasonal rhythms and immune function. Prior research reported low melatonin levels in autism spectrum disorders (ASD). ASMT located in pseudo-autosomal region 1 encodes the last enzyme of the melatonin biosynthesis pathway. A previous study reported an association between ASD and single nucleotide polymorphisms (SNPs) rs4446909 and rs5989...
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Objective: The aim of this study was to investigate the genetic causes of autosomal recessive intellectual disabilities (AR-ID) in Hamadan province of Iran. Materials & Methods: In this descriptive-analytical cross-sectional study, 25 families with more than one affected with putative autosomal recessive intellectual disability were chosen with collaboration of Welfare Organization of Hamada...
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N-acetyl serotonin methyl transferase (ASMT) is the last enzyme in the melatonin synthesis pathway. Evidence linking autism-related disorders with disorders of melatonin metabolism, and, more specifically, with mutations of the gene encoding ASMT, prompted us to investigate the properties and localization of this enzyme. As a first step, we undertook to overproduce the protein in a recombinant ...
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Patients affected by bipolar disorder (BD) frequently report abnormalities in sleep/wake cycles. In addition, they showed abnormal oscillating melatonin secretion, a key regulator of circadian rhythms and sleep patterns. The acetylserotonin O-methyltransferase (ASMT) is a key enzyme of the melatonin biosynthesis and has recently been associated with psychiatric disorders such as autism spectrum...
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