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Tytuł:
Knockout of Tmlhe in mice is not associated with autism spectrum disorder phenotypes or motor dysfunction despite low carnitine levels.
Autorzy:
Liepinsh, Edgars (AUTHOR)
Svalbe, Baiba (AUTHOR)
Stelfa, Gundega (AUTHOR)
Grinberga, Solveiga (AUTHOR)
Zvejniece, Liga (AUTHOR)
Schiöth, Helgi B. (AUTHOR)
Dambrova, Maija (AUTHOR)
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Źródło:
Molecular Autism. 8/8/2023, Vol. 14 Issue 1, p1-5. 5p.
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
SETD5 haploinsufficiency affects mitochondrial compartment in neural cells.
Autorzy:
Zaghi, Mattia (AUTHOR)
Longo, Fabiana (AUTHOR)
Massimino, Luca (AUTHOR)
Rubio, Alicia (AUTHOR)
Bido, Simone (AUTHOR)
Mazzara, Pietro Giuseppe (AUTHOR)
Bellini, Edoardo (AUTHOR)
Banfi, Federica (AUTHOR)
Podini, Paola (AUTHOR)
Maltecca, Francesca (AUTHOR)
Zippo, Alessio (AUTHOR)
Broccoli, Vania (AUTHOR)
Sessa, Alessandro (AUTHOR)
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Źródło:
Molecular Autism. 6/1/2023, Vol. 14 Issue 1, p1-16. 16p.
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Increased cerebral lactate levels in adults with autism spectrum disorders compared to non-autistic controls: a magnetic resonance spectroscopy study.
Autorzy:
Maier, Simon
Nickel, Kathrin
Lange, Thomas
Oeltzschner, Georg
Dacko, Michael
Endres, Dominique
Runge, Kimon
Schumann, Anke
Domschke, Katharina
Rousos, Michalis
Tebartz van Elst, Ludger
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Temat:
NUCLEAR magnetic resonance spectroscopy
AUTISM spectrum disorders
MAGNETIC control
LACTATES
CINGULATE cortex
Źródło:
Molecular Autism; 11/17/2023, Vol. 14 Issue 1, p1-13, 13p
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Metabolic and behavioral features of acute hyperpurinergia and the maternal immune activation mouse model of autism spectrum disorder.
Autorzy:
Zolkipli-Cunningham, Zarazuela (AUTHOR)
Naviaux, Jane C. (AUTHOR)
Nakayama, Tomohiro (AUTHOR)
Hirsch, Charlotte M. (AUTHOR)
Monk, Jonathan M. (AUTHOR)
Li, Kefeng (AUTHOR)
Wang, Lin (AUTHOR)
Le, Thuy P. (AUTHOR)
Meinardi, Simone (AUTHOR)
Blake, Donald R. (AUTHOR)
Naviaux, Robert K. (AUTHOR)
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Źródło:
PLoS ONE. 3/18/2021, Vol. 16 Issue 3, p1-33. 33p.
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Potential Role of L-Carnitine in Autism Spectrum Disorder.
Autorzy:
Kępka A; Department of Biochemistry, Radioimmunology and Experimental Medicine, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.
Ochocińska A; Department of Biochemistry, Radioimmunology and Experimental Medicine, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.
Chojnowska S; Faculty of Health Sciences, Lomza State University of Applied Sciences, 18-400 Lomza, Poland.
Borzym-Kluczyk M; Department of Pharmaceutical Biochemistry, Medical University of Bialystok, 15-089 Bialystok, Poland.
Skorupa E; Department of Biochemistry, Radioimmunology and Experimental Medicine, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.
Knaś M; Faculty of Health Sciences, Lomza State University of Applied Sciences, 18-400 Lomza, Poland.
Waszkiewicz N; Department of Psychiatry, Medical University of Bialystok, 15-089 Bialystok, Poland.
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Źródło:
Journal of clinical medicine [J Clin Med] 2021 Mar 13; Vol. 10 (6). Date of Electronic Publication: 2021 Mar 13.
Typ publikacji:
Journal Article; Review
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Cross-level analysis of molecular and neurobehavioral function in a prospective series of patients with germline heterozygous PTEN mutations with and without autism.
Autorzy:
Frazier TW; Department of Psychology, John Carroll University, University Heights, OH, 44118, USA. .; Autism Speaks, Cleveland, OH, USA. .; Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, OH, 44195, USA. .
Jaini R; Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, OH, 44195, USA.
Busch RM; Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, OH, 44195, USA.; Department of Neurology and Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, OH, 44195, USA.
Wolf M; Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, OH, 44195, USA.
Sadler T; Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, OH, 44195, USA.
Klaas P; Department of Neurology and Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, OH, 44195, USA.
Hardan AY; Department of Child Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Palo Alto, CA, USA.
Martinez-Agosto JA; Department of Human Genetics, UCLA, Los Angeles, CA, USA.
Sahin M; Translational Neurosciences Center, Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, 02115, USA.
Eng C; Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, OH, 44195, USA. .; Center for Personalized Genetic Healthcare, Cleveland Clinic Community Care and Population Health, Cleveland, OH, 44195, USA. .; Department of Genetics and Genome Sciences, Case Western Reserve University School of Medicine, Cleveland, OH, 44106, USA. .; Cleveland Clinic Genomic Medicine Institute, 9500 Euclid Avenue, NE-50, Cleveland, OH, 44195, USA. .
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Corporate Authors:
Developmental Synaptopathies Consortium
Źródło:
Molecular autism [Mol Autism] 2021 Jan 28; Vol. 12 (1), pp. 5. Date of Electronic Publication: 2021 Jan 28.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Genetic Association Studies*
Genetic Predisposition to Disease*
Germ-Line Mutation*
Heterozygote*
Autism Spectrum Disorder/*diagnosis
Autism Spectrum Disorder/*etiology
PTEN Phosphohydrolase/*genetics
Adolescent ; Alleles ; Animals ; Autism Spectrum Disorder/psychology ; Biomarkers ; Child ; Child, Preschool ; Disease Models, Animal ; Female ; Genotype ; Humans ; Male ; Neuropsychological Tests ; PTEN Phosphohydrolase/metabolism ; Phenotype ; Signal Transduction ; Young Adult
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Aberrant Mitochondrial Morphology and Function in the BTBR Mouse Model of Autism Is Improved by Two Weeks of Ketogenic Diet.
Autorzy:
Ahn Y; Departments of Pediatrics, Clinical Neurosciences, Physiology & Pharmacology, Alberta Children's Hospital Research Institute, Hotchkiss Brain Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 4N1, Canada.
Sabouny R; Departments of Medical Genetics and Biochemistry & Molecular Biology, Alberta Children's Hospital Research Institute, Cumming School of Medicine, Hotchkiss Brain Institute, University of Calgary, Calgary, AB T2N 4N1, Canada.
Villa BR; Departments of Pediatrics, Clinical Neurosciences, Physiology & Pharmacology, Alberta Children's Hospital Research Institute, Hotchkiss Brain Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 4N1, Canada.
Yee NC; Departments of Pediatrics, Clinical Neurosciences, Physiology & Pharmacology, Alberta Children's Hospital Research Institute, Hotchkiss Brain Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 4N1, Canada.
Mychasiuk R; Department of Psychology, Alberta Children's Hospital Research Institute, Hotchkiss Brain Institute, University of Calgary, Calgary, AB T2N 4N1, Canada.; Department of Neuroscience, Monash University, Melbourne, VIC 3004, Australia.
Uddin GM; Departments of Medical Genetics and Biochemistry & Molecular Biology, Alberta Children's Hospital Research Institute, Cumming School of Medicine, Hotchkiss Brain Institute, University of Calgary, Calgary, AB T2N 4N1, Canada.
Rho JM; Departments of Pediatrics, Clinical Neurosciences, Physiology & Pharmacology, Alberta Children's Hospital Research Institute, Hotchkiss Brain Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 4N1, Canada.
Shutt TE; Departments of Medical Genetics and Biochemistry & Molecular Biology, Alberta Children's Hospital Research Institute, Cumming School of Medicine, Hotchkiss Brain Institute, University of Calgary, Calgary, AB T2N 4N1, Canada.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2020 May 05; Vol. 21 (9). Date of Electronic Publication: 2020 May 05.
Typ publikacji:
Journal Article
MeSH Terms:
Diet, Ketogenic*
Disease Susceptibility*
Autism Spectrum Disorder/*etiology
Autism Spectrum Disorder/*metabolism
Mitochondria/*genetics
Mitochondria/*metabolism
Animals ; Autism Spectrum Disorder/diagnosis ; Autism Spectrum Disorder/diet therapy ; Biomarkers ; Disease Management ; Disease Models, Animal ; Mice ; Mitochondria/ultrastructure ; Mitochondrial Dynamics ; Mitochondrial Proteins/genetics ; Mitochondrial Proteins/metabolism ; Neurons/metabolism ; Neurons/pathology
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Developmental regression and mitochondrial function in children with autism.
Autorzy:
Singh K; Department of Pediatrics, University of Massachusetts Medical School, Worcester, Massachusetts, United States.
Singh IN; Division of Neurology, Section on Neurodevelopmental Disorders, Barrow Neurologic Institute at Phoenix Children's Hospital, Phoenix, Arizona, United States.; Department of Child Health, University of Arizona College of Medicine, Phoenix, Arizona, United States.
Diggins E; Department of Pediatrics, University of Massachusetts Medical School, Worcester, Massachusetts, United States.
Connors SL; Department of Pediatrics, University of Massachusetts Medical School, Worcester, Massachusetts, United States.
Karim MA; Division of Neurology, Section on Neurodevelopmental Disorders, Barrow Neurologic Institute at Phoenix Children's Hospital, Phoenix, Arizona, United States.; Department of Child Health, University of Arizona College of Medicine, Phoenix, Arizona, United States.
Lee D; Division of Neurology, Section on Neurodevelopmental Disorders, Barrow Neurologic Institute at Phoenix Children's Hospital, Phoenix, Arizona, United States.; Department of Child Health, University of Arizona College of Medicine, Phoenix, Arizona, United States.
Zimmerman AW; Department of Pediatrics, University of Massachusetts Medical School, Worcester, Massachusetts, United States.
Frye RE; Division of Neurology, Section on Neurodevelopmental Disorders, Barrow Neurologic Institute at Phoenix Children's Hospital, Phoenix, Arizona, United States.; Department of Child Health, University of Arizona College of Medicine, Phoenix, Arizona, United States.
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Źródło:
Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2020 May; Vol. 7 (5), pp. 683-694. Date of Electronic Publication: 2020 Apr 28.
Typ publikacji:
Journal Article
MeSH Terms:
Problem Behavior*
Autism Spectrum Disorder/*metabolism
Autism Spectrum Disorder/*physiopathology
Child Behavior/*physiology
Mitochondria/*metabolism
Oxygen Consumption/*physiology
Child ; Child, Preschool ; Cross-Sectional Studies ; DNA Copy Number Variations ; DNA, Mitochondrial ; Endophenotypes ; Female ; Humans ; Male ; NADH Dehydrogenase ; Stress, Physiological/physiology
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Mitochondrial dysfunction and autism: comprehensive genetic analyses of children with autism and mtDNA deletion.
Autorzy:
Varga NÁ; Institute of Genomic Medicine and Rare Disorders, Semmelweis University, Tömő Str. 25-29, Budapest, 1083, Hungary.
Pentelényi K; Institute of Genomic Medicine and Rare Disorders, Semmelweis University, Tömő Str. 25-29, Budapest, 1083, Hungary.
Balicza P; Institute of Genomic Medicine and Rare Disorders, Semmelweis University, Tömő Str. 25-29, Budapest, 1083, Hungary.
Gézsi A; Institute of Genomic Medicine and Rare Disorders, Semmelweis University, Tömő Str. 25-29, Budapest, 1083, Hungary.; Department of Genetics, Cell- and Immunobiology, Semmelweis University, Nagyvárad tér 4, Budapest, 1089, Hungary.
Reményi V; Institute of Genomic Medicine and Rare Disorders, Semmelweis University, Tömő Str. 25-29, Budapest, 1083, Hungary.
Hársfalvi V; Institute of Genomic Medicine and Rare Disorders, Semmelweis University, Tömő Str. 25-29, Budapest, 1083, Hungary.
Bencsik R; Institute of Genomic Medicine and Rare Disorders, Semmelweis University, Tömő Str. 25-29, Budapest, 1083, Hungary.
Illés A; Institute of Genomic Medicine and Rare Disorders, Semmelweis University, Tömő Str. 25-29, Budapest, 1083, Hungary.
Prekop C; Vadaskert Foundation for Children's Mental Health, Lipótmezei Str. 1-5, Budapest, 1021, Hungary.
Molnár MJ; Institute of Genomic Medicine and Rare Disorders, Semmelweis University, Tömő Str. 25-29, Budapest, 1083, Hungary. .
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Źródło:
Behavioral and brain functions : BBF [Behav Brain Funct] 2018 Feb 20; Vol. 14 (1), pp. 4. Date of Electronic Publication: 2018 Feb 20.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Gene Deletion*
Autism Spectrum Disorder/*diagnosis
Autism Spectrum Disorder/*genetics
DNA, Mitochondrial/*genetics
Mitochondrial Diseases/*diagnosis
Mitochondrial Diseases/*genetics
Adolescent ; Adult ; Autism Spectrum Disorder/complications ; Child ; Female ; Genetic Association Studies/methods ; Humans ; Male ; Mitochondrial Diseases/complications
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Warburg effect hypothesis in autism Spectrum disorders.
Autorzy:
Vallée A; Laboratoire de Mathématiques et Applications (LMA), UMR CNRS 7348, CHU Poitiers, University of Poitiers, Poitiers, France. .; Laboratoire de Mathématiques et Applications (LMA), UMR CNRS 7348, University of Poitiers, 11 Boulevard Marie et Pierre Curie, Poitiers, France. .
Vallée JN; Laboratoire de Mathématiques et Applications (LMA), UMR CNRS 7348, University of Poitiers, 11 Boulevard Marie et Pierre Curie, Poitiers, France.; CHU Amiens Picardie, Université Picardie Jules Verne (UPJV), Amiens, France.
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Źródło:
Molecular brain [Mol Brain] 2018 Jan 04; Vol. 11 (1), pp. 1. Date of Electronic Publication: 2018 Jan 04.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Glycolysis*
Models, Biological*
Wnt Signaling Pathway*
Autism Spectrum Disorder/*metabolism
Animals ; Humans ; Lactic Acid/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Association Between Air Pollution Exposure, Cognitive and Adaptive Function, and ASD Severity Among Children with Autism Spectrum Disorder.
Autorzy:
Kerin T; Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Volk H; Department of Mental Health, Bloomberg School of Public Health, Johns Hopkins University, 624 N. Broadway, HH833, Baltimore, MD, 21205, USA. .
Li W; Department of Epidemiology, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD, USA.
Lurmann F; Sonoma Technology Inc., Petaluma, CA, USA.
Eckel S; Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
McConnell R; Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Hertz-Picciotto I; Department of Public Health Sciences, University of California, Davis, CA, USA.
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Źródło:
Journal of autism and developmental disorders [J Autism Dev Disord] 2018 Jan; Vol. 48 (1), pp. 137-150.
Typ publikacji:
Journal Article
MeSH Terms:
Severity of Illness Index*
Adaptation, Psychological/*physiology
Air Pollution/*adverse effects
Autism Spectrum Disorder/*epidemiology
Cognition/*physiology
Prenatal Exposure Delayed Effects/*epidemiology
Autism Spectrum Disorder/diagnosis ; Autism Spectrum Disorder/psychology ; California/epidemiology ; Case-Control Studies ; Child ; Child, Preschool ; Environmental Exposure/adverse effects ; Female ; Humans ; Male ; Particulate Matter/adverse effects ; Pregnancy ; Prenatal Exposure Delayed Effects/diagnosis ; Prenatal Exposure Delayed Effects/psychology
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Role of Genetics in the Etiology of Autistic Spectrum Disorder: Towards a Hierarchical Diagnostic Strategy.
Autorzy:
Robert C; Pôle Hospitalo-Universitaire de Psychiatrie de l'Enfant et de l'Adolescent (PHUPEA), University of Rennes 1 and Centre Hospitalier Guillaume Régnier, 35200 Rennes, France. .; Service de Génétique Clinique, Centre de Référence Maladies Rares Anomalies du Développement (Centre Labellisé pour les Anomalies du Développement de l'Ouest: CLAD Ouest), Hôpital Sud, Centre Hospitalier Universitaire de Rennes, 35200 Rennes, France. .
Pasquier L; Service de Génétique Clinique, Centre de Référence Maladies Rares Anomalies du Développement (Centre Labellisé pour les Anomalies du Développement de l'Ouest: CLAD Ouest), Hôpital Sud, Centre Hospitalier Universitaire de Rennes, 35200 Rennes, France. .
Cohen D; Hospital-University Department of Child and Adolescent Psychiatry, Pitié-Salpétrière Hospital, Paris 6 University, 75013 Paris, France. .
Fradin M; Service de Génétique Clinique, Centre de Référence Maladies Rares Anomalies du Développement (Centre Labellisé pour les Anomalies du Développement de l'Ouest: CLAD Ouest), Hôpital Sud, Centre Hospitalier Universitaire de Rennes, 35200 Rennes, France. .
Canitano R; Division of Child and Adolescent Neuropsychiatry, University Hospital of Siena, 53100 Siena, Italy. .
Damaj L; Service de Génétique Clinique, Centre de Référence Maladies Rares Anomalies du Développement (Centre Labellisé pour les Anomalies du Développement de l'Ouest: CLAD Ouest), Hôpital Sud, Centre Hospitalier Universitaire de Rennes, 35200 Rennes, France. .
Odent S; Service de Génétique Clinique, Centre de Référence Maladies Rares Anomalies du Développement (Centre Labellisé pour les Anomalies du Développement de l'Ouest: CLAD Ouest), Hôpital Sud, Centre Hospitalier Universitaire de Rennes, 35200 Rennes, France. .
Tordjman S; Pôle Hospitalo-Universitaire de Psychiatrie de l'Enfant et de l'Adolescent (PHUPEA), University of Rennes 1 and Centre Hospitalier Guillaume Régnier, 35200 Rennes, France. .; Laboratory of Psychology of Perception, University Paris Descartes, 75270 Paris, France. .
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2017 Mar 12; Vol. 18 (3). Date of Electronic Publication: 2017 Mar 12.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Autism Spectrum Disorder/*genetics
Genetic Diseases, Inborn/*epidemiology
Autism Spectrum Disorder/diagnosis ; Autism Spectrum Disorder/epidemiology ; Autism Spectrum Disorder/etiology ; Genetic Predisposition to Disease ; Humans
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Can psychiatric childhood disorders be due to inborn errors of metabolism?
Autorzy:
Simons A; Centre of Heriditary Metabolic Diseases Antwerp (CEMA), University Hospital of Antwerp (UZA), Wilrijkstraat, 2650, Edegem, Belgium. .; Collaborative Antwerp Psychiatric Research Institute (CAPRI) Youth, Antwerp, Belgium. .; University Child and Adolescent Psychiatry Antwerp, Lindendreef 1, 2020, Antwerp, Belgium. .
Eyskens F; Centre of Heriditary Metabolic Diseases Antwerp (CEMA), University Hospital of Antwerp (UZA), Wilrijkstraat, 2650, Edegem, Belgium.
Glazemakers I; Collaborative Antwerp Psychiatric Research Institute (CAPRI) Youth, Antwerp, Belgium.; University Child and Adolescent Psychiatry Antwerp, Lindendreef 1, 2020, Antwerp, Belgium.; University of Antwerp (CAPRI), Universiteitsplein 1, 2610, Wilrijk, Belgium.
van West D; Collaborative Antwerp Psychiatric Research Institute (CAPRI) Youth, Antwerp, Belgium.; University of Brussels, Brussels, Belgium.; University Child and Adolescent Psychiatry Antwerp, Lindendreef 1, 2020, Antwerp, Belgium.; University of Antwerp (CAPRI), Universiteitsplein 1, 2610, Wilrijk, Belgium.
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Źródło:
European child & adolescent psychiatry [Eur Child Adolesc Psychiatry] 2017 Feb; Vol. 26 (2), pp. 143-154. Date of Electronic Publication: 2016 Sep 30.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Mental Disorders/*diagnosis
Metabolism, Inborn Errors/*diagnosis
Adolescent ; Attention Deficit Disorder with Hyperactivity/epidemiology ; Attention Deficit Disorder with Hyperactivity/etiology ; Attention Deficit Disorder with Hyperactivity/psychology ; Child ; Comorbidity ; Feeding and Eating Disorders/epidemiology ; Feeding and Eating Disorders/etiology ; Feeding and Eating Disorders/psychology ; Female ; Humans ; Learning Disabilities/epidemiology ; Learning Disabilities/etiology ; Learning Disabilities/psychology ; Male ; Mental Disorders/epidemiology ; Mental Disorders/etiology ; Mental Disorders/psychology ; Metabolism, Inborn Errors/complications ; Metabolism, Inborn Errors/epidemiology ; Metabolism, Inborn Errors/psychology ; Psychotic Disorders/epidemiology ; Psychotic Disorders/etiology ; Psychotic Disorders/psychology
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Genetic Evidence for Elevated Pathogenicity of Mitochondrial DNA Heteroplasmy in Autism Spectrum Disorder.
Autorzy:
Wang Y; Division of Nutritional Sciences, Cornell University, Ithaca, New York, United States of America.
Picard M; Department of Psychiatry, Division of Behavioral Medicine, Columbia University Medical Center, New York, New York, United States of America.; Department of Neurology, Division of Columbia Translational Neuroscience Initiative, Columbia University Medical Center, New York, New York, United States of America.
Gu Z; Division of Nutritional Sciences, Cornell University, Ithaca, New York, United States of America.
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Źródło:
PLoS genetics [PLoS Genet] 2016 Oct 28; Vol. 12 (10), pp. e1006391. Date of Electronic Publication: 2016 Oct 28 (Print Publication: 2016).
Typ publikacji:
Journal Article
MeSH Terms:
Genetic Predisposition to Disease*
Autism Spectrum Disorder/*genetics
DNA, Mitochondrial/*genetics
Exome/*genetics
Mitochondria/*genetics
Adolescent ; Autism Spectrum Disorder/pathology ; Child ; DNA Mutational Analysis ; Female ; High-Throughput Nucleotide Sequencing ; Humans ; Male ; Mitochondria/pathology ; Mutation ; Pedigree ; Phenotype ; Siblings
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Expanding the toolbox of ADHD genetics. How can we make sense of parent of origin effects in ADHD and related behavioral phenotypes?
Autorzy:
Zayats T; Department of Biomedicine, K.G. Jebsen Centre for Neuropsychiatric Disorders, University of Bergen, Bergen, Norway. .
Johansson S; Department of Clinical Science, K.G. Jebsen Centre for Neuropsychiatric Disorders, University of Bergen, Bergen, Norway. .; Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway. .
Haavik J; Department of Biomedicine, K.G. Jebsen Centre for Neuropsychiatric Disorders, University of Bergen, Bergen, Norway. .; Division of Psychiatry, Haukeland University Hospital, Bergen, Norway. .
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Źródło:
Behavioral and brain functions : BBF [Behav Brain Funct] 2015 Oct 16; Vol. 11 (1), pp. 33. Date of Electronic Publication: 2015 Oct 16.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't; Review
MeSH Terms:
Genome, Mitochondrial*
Genomic Imprinting*
Maternal Health*
Parents*
Attention Deficit Disorder with Hyperactivity/*genetics
Genetic Predisposition to Disease/*genetics
Sex Chromosomes/*genetics
Female ; Humans ; Male
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Elevated mitochondrial DNA copy number in peripheral blood cells is associated with childhood autism.
Autorzy:
Chen S; The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, 325027, China. .
Li Z; Institute of Genomic Medicine, Wenzhou Medical University, Wenzhou, Zhejiang, China. .
He Y; Institute of Mental Health of the Second Xiangya Hospital, National Laboratory for Psychiatric Disease Diagnosis and Treatment, Key Laboratory of Psychiatry and Mental Health of Hunan Province, The Central South University, Changsha, China. .
Zhang F; Institute of Mental Health of the Second Xiangya Hospital, National Laboratory for Psychiatric Disease Diagnosis and Treatment, Key Laboratory of Psychiatry and Mental Health of Hunan Province, The Central South University, Changsha, China. .; The National Clinical Research Center for Psychiatric and Psychological Diseases, Changsha, China. .; Division of Clinical Sciences, Lieber Institute for Brain Development, John Hopkins University Medical Campus, 855 N. Wolfe Street, Suite 300, Baltimore, 21205, MD, USA. .
Li H; Institute of Mental Health of the Second Xiangya Hospital, National Laboratory for Psychiatric Disease Diagnosis and Treatment, Key Laboratory of Psychiatry and Mental Health of Hunan Province, The Central South University, Changsha, China. .
Liao Y; Institute of Mental Health of the Second Xiangya Hospital, National Laboratory for Psychiatric Disease Diagnosis and Treatment, Key Laboratory of Psychiatry and Mental Health of Hunan Province, The Central South University, Changsha, China. .
Wei Z; Department of Women's Health Care, The Affiliated Shenzhen Maternal and Child Health Care Hospital, Nanfang University of Medical Science, Shenzhen, China. .
Wan G; Department of Women's Health Care, The Affiliated Shenzhen Maternal and Child Health Care Hospital, Nanfang University of Medical Science, Shenzhen, China. .
Xiang X; BGI Ark Biotechnology Co., Ltd., Shenzhen, Guangdong, China. .
Hu M; Institute of Mental Health of the Second Xiangya Hospital, National Laboratory for Psychiatric Disease Diagnosis and Treatment, Key Laboratory of Psychiatry and Mental Health of Hunan Province, The Central South University, Changsha, China. .
Xia K; The State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China. .
Chen X; The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, 325027, China. .; Institute of Mental Health of the Second Xiangya Hospital, National Laboratory for Psychiatric Disease Diagnosis and Treatment, Key Laboratory of Psychiatry and Mental Health of Hunan Province, The Central South University, Changsha, China. .; The National Clinical Research Center for Psychiatric and Psychological Diseases, Changsha, China. .
Tang J; Institute of Mental Health of the Second Xiangya Hospital, National Laboratory for Psychiatric Disease Diagnosis and Treatment, Key Laboratory of Psychiatry and Mental Health of Hunan Province, The Central South University, Changsha, China. .; The National Clinical Research Center for Psychiatric and Psychological Diseases, Changsha, China. .; Division of Clinical Sciences, Lieber Institute for Brain Development, John Hopkins University Medical Campus, 855 N. Wolfe Street, Suite 300, Baltimore, 21205, MD, USA. .
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Źródło:
BMC psychiatry [BMC Psychiatry] 2015 Mar 17; Vol. 15, pp. 50. Date of Electronic Publication: 2015 Mar 17.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Autistic Disorder/*etiology
Autistic Disorder/*metabolism
DNA Copy Number Variations/*physiology
DNA, Mitochondrial/*metabolism
Leukocytes, Mononuclear/*metabolism
Mitochondrial Diseases/*complications
Case-Control Studies ; Child ; Child, Preschool ; Female ; Humans ; Male ; Mitochondrial Diseases/metabolism ; Real-Time Polymerase Chain Reaction
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Autism and intellectual disability associated with mitochondrial disease and hyperlactacidemia.
Autorzy:
Guevara-Campos J; Felipe Guevara Rojas' Hospital, Pediatrics Service, University of Oriente, El Tigre-Anzoátegui, 6034 Venezuela, Spain. .
González-Guevara L; Felipe Guevara Rojas' Hospital, Epilepsy and Encephalography Unit, El Tigre-Anzoátegui, 6034 Venezuela, Spain. .
Cauli O; Department of Nursing, University of Valencia, 46010 Valencia, Spain. .
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2015 Feb 11; Vol. 16 (2), pp. 3870-84. Date of Electronic Publication: 2015 Feb 11.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Child Development Disorders, Pervasive/*complications
Child Development Disorders, Pervasive/*drug therapy
Hyperlactatemia/*complications
Intellectual Disability/*complications
Mitochondrial Diseases/*complications
Vitamins/*administration & dosage
Carnitine/therapeutic use ; Child Development Disorders, Pervasive/psychology ; Child, Preschool ; Female ; Folic Acid/therapeutic use ; Humans ; Hyperlactatemia/drug therapy ; Infant ; Intellectual Disability/drug therapy ; Intellectual Disability/psychology ; Male ; Mitochondrial Diseases/drug therapy ; Ubiquinone/analogs & derivatives ; Ubiquinone/therapeutic use ; Vitamins/therapeutic use
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Role of NAD(+), Oxidative Stress, and Tryptophan Metabolism in Autism Spectrum Disorders.
Autorzy:
Essa MM; Dept of Food Science and Nutrition, College of Agriculture and Marine Sciences, Sultan Qaboos University, Oman. ; School of Medical Sciences, Department of Pharmacology, Faculty of Medicine, University of NSW, Sydney, Australia.
Subash S
Braidy N
Al-Adawi S
Lim CK
Manivasagam T
Guillemin GJ
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Źródło:
International journal of tryptophan research : IJTR [Int J Tryptophan Res] 2013 Jul 21; Vol. 6 (Suppl 1), pp. 15-28. Date of Electronic Publication: 2013 Jul 21 (Print Publication: 2013).
Typ publikacji:
Journal Article
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Current progress and challenges in the search for autism biomarkers.
Autorzy:
Voineagu I; School of Biotechnology and Biomolecular Sciences, University of New South Wales, Kensington, Sydney, NSW 2052, Australia.
Yoo HJ
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Źródło:
Disease markers [Dis Markers] 2013; Vol. 35 (1), pp. 55-65. Date of Electronic Publication: 2013 Jul 21.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't; Review
MeSH Terms:
Child Development Disorders, Pervasive/*metabolism
Animals ; Brain/pathology ; Brain/physiopathology ; Cephalometry ; Child Development Disorders, Pervasive/diagnosis ; Child Development Disorders, Pervasive/genetics ; Child Development Disorders, Pervasive/immunology ; Genetic Markers ; Genetic Predisposition to Disease ; Humans ; Mitochondria/metabolism ; Oxidative Stress ; Serotonin/metabolism ; Transcriptome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
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