Mitochondrial Dysfunction may explain symptom variation in Phelan-McDermid Syndrome

scientific article published on 29 January 2016

Mitochondrial Dysfunction may explain symptom variation in Phelan-McDermid Syndrome is …
instance of (P31):
scholarly articleQ13442814

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P6179Dimensions Publication ID1002042750
P356DOI10.1038/SREP19544
P8608Fatcat IDrelease_3vsig7vrjfat3dmrhyo3mi6x64
P932PMC publication ID4731780
P698PubMed publication ID26822410
P5875ResearchGate publication ID292343277

P50authorDevin M CoxQ86828712
Agustin LegidoQ117803407
P2093author name stringJohn Slattery
Richard E Frye
Stephen Kahler
Doreen Granpeesheh
Marie Tippett
Michael J Goldenthal
Shirish Damle
P2860cites workPhenotypic consequences of a novelSCO2gene mutationQ59394038
Non-invasive evaluation of buccal respiratory chain enzyme dysfunction in mitochondrial disease: comparison with studies in muscle biopsyQ83092447
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Oxidative stress induces mitochondrial dysfunction in a subset of autism lymphoblastoid cell lines in a well-matched case control cohortQ37453274
Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders.Q38120386
Mitochondrial disease in 22q13 duplication syndromeQ41934213
Mitochondrial ribosomal RNA mutation associated with both antibiotic–induced and non–syndromic deafnessQ46157086
Characterization of a novel TYMP splice site mutation associated with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)Q46214257
Altered calcium homeostasis in autism-spectrum disorders: evidence from biochemical and genetic studies of the mitochondrial aspartate/glutamate carrier AGC1.Q46497027
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Segmental copy number variation shapes tissue transcriptomesQ48712677
5q14.3 deletion manifesting as mitochondrial disease and autism: case reportQ50304932
Autism associated with the mitochondrial DNA G8363A transfer RNA(Lys) mutationQ50312783
Buccal swab analysis of mitochondrial enzyme deficiency and DNA defects in a child with suspected myoclonic epilepsy and ragged red fibers (MERRF).Q50522064
Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly geneQ22010737
Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genesQ22337162
Shank3 mutant mice display autistic-like behaviours and striatal dysfunctionQ24597501
The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome)Q24612792
Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse modelsQ27322785
Identification and primary structure of five human NADH-ubiquinone oxidoreductase subunitsQ28118081
Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiencyQ28140889
Interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndromeQ28237432
Identification and characterization of mouse TRMU gene encoding the mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferaseQ28241063
Clinical and genomic evaluation of 201 patients with Phelan-McDermid syndromeQ28306951
Relative impact of nucleotide and copy number variation on gene expression phenotypesQ29614883
Unique acyl-carnitine profiles are potential biomarkers for acquired mitochondrial disease in autism spectrum disorderQ30534798
The effect of translocation-induced nuclear reorganization on gene expressionQ33812517
The Children's Sleep Habits Questionnaire (CSHQ): psychometric properties of a survey instrument for school-aged childrenQ33930357
Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndromeQ33967982
The first knockin mouse model of episodic ataxia type 2Q34325294
Implementing the American Academy of Pediatrics attention-deficit/hyperactivity disorder diagnostic guidelines in primary care settingsQ34840371
Structural variation-associated expression changes are paralleled by chromatin architecture modificationsQ35050556
Homozygous carnitine palmitoyltransferase 1b (muscle isoform) deficiency is lethal in the mouseQ36501934
Metabolic effects of sapropterin treatment in autism spectrum disorder: a preliminary studyQ36764473
Biochemical assays of respiratory chain complex activityQ36796192
Redox metabolism abnormalities in autistic children associated with mitochondrial diseaseQ36956659
Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient miceQ37090114
The impact of copy number variation on local gene expression in mouse hematopoietic stem and progenitor cellsQ37309209
Sleep hygiene for children with neurodevelopmental disabilitiesQ37338683
P275copyright licenseCreative Commons Attribution 4.0 InternationalQ20007257
P6216copyright statuscopyrightedQ50423863
P407language of work or nameEnglishQ1860
P304page(s)19544
P577publication date2016-01-29
P1433published inScientific ReportsQ2261792
P1476titleMitochondrial Dysfunction may explain symptom variation in Phelan-McDermid Syndrome
P478volume6

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cites work (P2860)
Q42694581Autistic Siblings with Novel Mutations in Two Different Genes: Insight for Genetic Workups of Autistic Siblings and Connection to Mitochondrial Dysfunction
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Q57922552Clinical and Molecular Characteristics of Mitochondrial Dysfunction in Autism Spectrum Disorder
Q97418099Early life metal exposure dysregulates cellular bioenergetics in children with regressive autism spectrum disorder
Q26744037Identification and Treatment of Pathophysiological Comorbidities of Autism Spectrum Disorder to Achieve Optimal Outcomes
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Q64248477Mitochondrial Dysfunction Is Inducible in Lymphoblastoid Cell Lines From Children With Autism and May Involve the TORC1 Pathway
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Q28078384Primary Mitochondrial Disease and Secondary Mitochondrial Dysfunction: Importance of Distinction for Diagnosis and Treatment
Q37676044The Effect of Mitochondrial Supplements on Mitochondrial Activity in Children with Autism Spectrum Disorder

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