[HTML][HTML] Discoveries, metabolic roles and diseases of mitochondrial carriers: a review

F Palmieri, M Monné - Biochimica et Biophysica Acta (BBA)-Molecular Cell …, 2016 - Elsevier
Mitochondrial carriers (MCs) are a superfamily of nuclear-encoded proteins that are mostly
localized in the inner mitochondrial membrane and transport numerous metabolites …

Mitochondrial dysfunction as a central actor in intellectual disability-related diseases: an overview of Down syndrome, autism, Fragile X and Rett syndrome

D Valenti, L de Bari, B De Filippis… - Neuroscience & …, 2014 - Elsevier
Clinical manifestations typical of mitochondrial diseases are often present in various genetic
syndromes associated with intellectual disability, a condition leading to deficit in cognitive …

Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals

JJ Lee, R Wedow, A Okbay, E Kong, O Maghzian… - Nature …, 2018 - nature.com
Here we conducted a large-scale genetic association analysis of educational attainment in a
sample of approximately 1.1 million individuals and identify 1,271 independent genome …

Aralar sequesters GABA into hyperactive mitochondria, causing social behavior deficits

AK Kanellopoulos, V Mariano, M Spinazzi, YJ Woo… - Cell, 2020 - cell.com
Social impairment is frequently associated with mitochondrial dysfunction and altered
neurotransmission. Although mitochondrial function is crucial for brain homeostasis, it …

Metabolomics as a tool for discovery of biomarkers of autism spectrum disorder in the blood plasma of children

PR West, DG Amaral, P Bais, AM Smith, LA Egnash… - PLoS …, 2014 - journals.plos.org
Background The diagnosis of autism spectrum disorder (ASD) at the earliest age possible is
important for initiating optimally effective intervention. In the United States the average age …

Diseases Caused by Mutations in Mitochondrial Carrier Genes SLC25: A Review

F Palmieri, P Scarcia, M Monné - Biomolecules, 2020 - mdpi.com
In the 1980s, after the mitochondrial DNA (mtDNA) had been sequenced, several diseases
resulting from mtDNA mutations emerged. Later, numerous disorders caused by mutations …

Evidence of mitochondrial dysfunction in autism: Biochemical links, genetic‐based associations, and non‐energy‐related mechanisms

KK Griffiths, RJ Levy - Oxidative medicine and cellular longevity, 2017 - Wiley Online Library
Autism spectrum disorder (ASD), the fastest growing developmental disability in the United
States, represents a group of neurodevelopmental disorders characterized by impaired …

[HTML][HTML] AGC1/2, the mitochondrial aspartate-glutamate carriers

ND Amoedo, G Punzi, E Obre, D Lacombe… - … et Biophysica Acta (BBA …, 2016 - Elsevier
In this review we discuss the structure and functions of the aspartate/glutamate carriers
(AGC1-aralar and AGC2-citrin). Those proteins supply the aspartate synthesized within …

Channelopathy pathogenesis in autism spectrum disorders

G Schmunk, JJ Gargus - Frontiers in genetics, 2013 - frontiersin.org
Autism spectrum disorder (ASD) is a syndrome that affects normal brain development and is
characterized by impaired social interaction as well as verbal and non-verbal …

Mitochondrial function and abnormalities implicated in the pathogenesis of ASD

FJ Castora - Progress in Neuro-Psychopharmacology and …, 2019 - Elsevier
Mitochondria are the powerhouse that generate over 90% of the ATP produced in cells. In
addition to its role in energy production, the mitochondrion also plays a major role in …