A Novel Homozygous Variant in the Aspartoacylase Gene Causes Canavan Disease-Case Report
Journal of Pediatric ResearchGlu178 is the active site residue essential for substrate affinity and catalytic activity of the aspartoacylase enzyme. Sanger sequencing in an infant with Canavan disease revealed a homozygous ASPA: c.532G>A: p. (Glu178Lys) variant.
Archana Vaddinahalli Kariyappa +7 more
doaj +1 more source
Unbiased metabolomic investigation of Alzheimer's disease brain points to dysregulation of mitochondrial aspartate metabolism [PDF]
, 2015 Alzheimer's disease (AD) is the most common cause of adult dementia. Yet the complete set of molecular changes accompanying this inexorable, neurodegenerative disease remains elusive.
Giuseppe Astarita +10 more
core +2 more sources
N-acetylaspartate: Genomics, phenomics and metabonomics
, 2018 N-acetylaspartate (NAA) is the second most abundant metabolite in the brain. Its physiological roles have eluded researchers for sixty years and hypotheses on its functions are contentious. Clinical evidence suggests both absence and accumulation of NAA are poorly tolerated. Hypoacetylaspartia is caused by a null-mutation of the NAA-synthesizing enzyme
openaire +2 more sources
Neurochemical Correlates of Mood and Anxiety in Healthy Women: Basal Ganglia Profiling With 3T 1HMRS
Journal of Integrative NeuroscienceBackground: Emotional variability in healthy individuals may reflect underlying neurochemical processes relevant to mental health. Proton magnetic resonance spectroscopy (1H-MRS) enables in vivo quantification of metabolites linked to ...
Halima Hawesa +6 more
doaj +1 more source
Cerebrospinal fluid metabolomics reveals altered waste clearance and accelerated aging in HIV patients with neurocognitive impairment [PDF]
, 2014 Objective(s): HIV-associated neurocognitive disorders (HAND) remain prevalent in HIV-infected patients on antiretroviral therapy (ART), but the underlying mechanisms are unclear. Some features of HAND resemble those of age-associated cognitive decline in
Cassol, Edana +4 more
core +1 more source
Neural plasticity in common forms of chronic headaches [PDF]
, 2015 Headaches are universal experiences and among the most common disorders. While headache may be physiological in the acute setting, it can become a pathological and persistent condition.The mechanisms underlying the transition from episodic to chronic ...
Chen, Wei-Ta +5 more
core +4 more sources
Chorioamnionitis and Early Brain Development
Pediatric Neurology Briefs, 2009 The association of chorioamnionitis and early postnatal risk factors for white matter injury (WMI) and its effect on early brain development were determined in a study at University of British Columbia, Vancouver, Canada.
J Gordon Millichap
doaj +1 more source
Lactate, N-acetylaspartate, choline and creatine concentrations, and spin-spin relaxation in thalamic and occipito-parietal regions of developing human brain [PDF]
, 1996 Previous studies of the brains of normal infants demonstrated lower lactate (Lac)/choline (Cho), Lac/creatine (Cr), and Lac/ N-acetylaspartate (Naa) peak-area ratios in the thalamic region (predominantly gray matter) compared with occipitoparietal ...
A. Lorek +8 more
core +1 more source
Dramatic Improvement in Juvenile Parkinsonism after Levodopa Treatment in a Patient Negative for the PANK2 Mutation [PDF]
, 1952 Digitalitzat per ...
Syuan-Yu Hong +8 more
core +2 more sources
Neurobiology of Disease, 2007 Megencephaly mice (BALB/cByJ-Kv1.1mceph/mceph) display excessive brain growth and seizures related to a mutation within the potassium channel gene Kv1.1 producing a malfunctioning protein.
Eric Westman +3 more
doaj +1 more source