Monoamine oxidase deficiency in males with an X chromosome deletion.

Neuron
K B SimsG Bruns

Abstract

Mapping of the human MAOA gene to chromosomal region Xp21-p11 prompted our study of two affected males in a family previously reported to have Norrie disease resulting from a submicroscopic deletion in this chromosomal region. In this investigation we demonstrate in these cousins deletion of the MAOA gene, undetectable levels of MAO-A and MAO-B activities in their fibroblasts and platelets, respectively, loss of mRNA for MAO-A in fibroblasts, and substantial alterations in urinary catecholamine metabolites. The present study documents that a marked deficiency of MAO activity is compatible with life and that genes for MAO-A and MAO-B are near each other in this Xp chromosomal region. Some of the clinical features of these MAO deletion patients may help to identify X-linked MAO deficiency diseases in humans.

References

Oct 1, 1979·Proceedings of the National Academy of Sciences of the United States of America·J GusellaD Housman
May 1, 1979·The Journal of Comparative Neurology·T KasamatsuM Ary
Feb 1, 1978·Clinica Chimica Acta; International Journal of Clinical Chemistry·G P ReynoldsD O Gray
Mar 1, 1975·Acta Ophthalmologica·M Warburg
Aug 8, 1975·Brain Research·F J ChordikianS G Alivisatos
Jan 6, 1977·Nature·V GloverG J Riley
Feb 1, 1977·The Journal of Nervous and Mental Disease·D L MurphyE Gordon
May 1, 1977·Biochemical Pharmacology·C H Donnelly, D L Murphy
Jan 1, 1977·Biochemical Society Transactions·J F Powell, I W Craig
Oct 15, 1977·Clinica Chimica Acta; International Journal of Clinical Chemistry·P A Bond, R L Cundall
Apr 15, 1976·FEBS Letters·T J MantleK F Tipton
Jan 1, 1988·Comparative Biochemistry and Physiology. C, Comparative Pharmacology and Toxicology·A Nicotra, O Senatori
Jan 1, 1987·The Journal of Histochemistry and Cytochemistry : Official Journal of the Histochemistry Society·L W ThorpeR M Denney
Feb 1, 1988·Journal of Medical Genetics·D DonnaiA P Read
Jul 1, 1988·Proceedings of the National Academy of Sciences of the United States of America·A W BachJ C Shih
Oct 1, 1988·Journal of Neurochemistry·Y P HsuX O Breakefield
Apr 1, 1986·Cell Biochemistry and Function·V Glover, M Sandler
Jan 1, 1986·Journal of Neuroscience Research·L M KocherspergerR M Denney
Jun 1, 1986·Cellular and Molecular Neurobiology·S B Edelstein, X O Breakefield
Oct 11, 1985·Science·K N WestlundC W Abell
Jan 1, 1985·Psychopharmacology·T SunderlandD L Murphy
May 11, 1973·Molecular and Cellular Biochemistry·R McCauley, E Racker
Feb 1, 1971·Archives of General Psychiatry·R J WyattF Snyder
Dec 1, 1971·British Journal of Pharmacology·C Goridis, N H Neff
Mar 1, 1971·Psychosomatic Medicine·D E RedmondH Dekirmenjian
Jul 1, 1968·Biochemical Pharmacology·J P Johnston
Jan 1, 1980·Schizophrenia Bulletin·D L Murphy, N H Kalin
Feb 1, 1982·Behavior Genetics·J E Pintar, X O Breakefield
Nov 17, 1983·Nature·J F GusellaA Y Sakaguchi
Oct 1, 1982·Proceedings of the National Academy of Sciences of the United States of America·P LevittX O Breakefield

❮ Previous
Next ❯

Citations

May 1, 1994·Movement Disorders : Official Journal of the Movement Disorder Society·G S HotamisligilJ Sullivan
Dec 1, 1989·Human Genetics·P J DiergaardeH H Ropers
Jan 1, 1991·Journal of Neural Transmission. General Section·D L MurphyX O Breakefield
Jan 1, 1990·Pharmacology & Therapeutics·W WeylerX O Breakefield
Jan 1, 1996·Behavioural Brain Research·P M Whitaker-AzmitiaJ M Lauder
Dec 1, 1994·General Pharmacology·P H Yu
Jun 1, 1995·European Neuropsychopharmacology : the Journal of the European College of Neuropsychopharmacology·S Tuinier, W M Verhoeven
Sep 8, 1993·Biochimica Et Biophysica Acta·B S Shastry
Mar 19, 2003·Behavioural Brain Research·Andreas Reif, Klaus-Peter Lesch
Feb 1, 1992·Psychological Medicine·B Anderton, R Kerwin
Jan 1, 1994·Eye·G Black, R M Redmond
Jun 1, 1992·Nature Genetics·W BergerM Warburg
Jun 1, 1992·Nature Genetics·Z Y ChenI W Craig
May 5, 2005·Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology·Christian P JacobKlaus Peter Lesch
Aug 25, 1991·Nucleic Acids Research·Z Y ChenI Craig
Jun 1, 1991·Journal of Medical Genetics·I A Glass
Apr 15, 1999·Annual Review of Neuroscience·J C ShihM J Ridd
Dec 22, 2010·Journal of Psychiatry & Neuroscience : JPN·Stefano PorcelliAlessandro Serretti
Dec 21, 2010·Journal of Psychiatry & Neuroscience : JPN·Simon N Young
Feb 24, 2016·Neuroscience Letters·Evelina Leivada
Feb 9, 2013·The Journal of Pediatrics·Cornelius CourtsBurkhard Madea
Feb 8, 2011·Comprehensive Psychiatry·Irving M RetiGerald Nestadt
Apr 15, 2006·BioEssays : News and Reviews in Molecular, Cellular and Developmental Biology·Nina K Popova
Jul 16, 2011·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Lu LiuYu-Feng Wang
Jul 13, 2012·American Journal of Medical Genetics. Part a·Sharon E SmithHeidi L Rehm
Nov 20, 2015·Antioxidants & Redox Signaling·Ana I CasasHarald H H W Schmidt
Aug 12, 1999·American Journal of Human Genetics·J C Shih, R F Thompson
Jul 22, 2015·Pediatric Neurology·Lance H RodanPhillip L Pearl
Oct 30, 1998·American Journal of Human Genetics·A L DeStefanoH Gavras
Aug 2, 2012·The International Journal of Neuropsychopharmacology·Marco BortolatoJean C Shih
Nov 26, 2009·Comparative Biochemistry and Physiology. Part B, Biochemistry & Molecular Biology·Haruyo SugimotoHiroyasu Kinemuchi
Feb 16, 1996·American Journal of Medical Genetics·E A TivolX O Breakefield
Jul 1, 1989·Journal of Neurochemistry·Y P HsuX O Breakefield
Aug 11, 2007·Journal of Child Neurology·Phillip L PearlAlex Sokohl

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Next ❯

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