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Cross-species analysis identifies mitochondrial dysregulation as a functional consequence of the schizophrenia-associated 3q29 deletion.
Sci Adv
August 2023
Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
The 1.6-megabase deletion at chromosome 3q29 (3q29Del) is the strongest identified genetic risk factor for schizophrenia, but the effects of this variant on neurodevelopment are not well understood. We interrogated the developing neural transcriptome in two experimental model systems with complementary advantages: isogenic human cortical organoids and isocortex from the 3q29Del mouse model.
View Article and Find Full Text PDFCrystal structures, Hirshfeld analysis, and energy framework analysis of two differently 3'-substituted 4-methylchalcones: 3'-(N=CHCH-p-CH)-4-methylchalcone and 3'-(NHCOCH)-4-methylchalcone.
Acta Crystallogr C Struct Chem
June 2023
Chemistry & Biochemistry, Gonzaga University, Spokane, Washington, USA.
Two crystal structures of chalcones, or 1,3-diarylprop-2-en-1-ones, are presented; both contain a p-methyl substitution on the 3-Ring, but differ with respect to the m-substitution on the 1-Ring. Their systematic names are (2E)-3-(4-methylphenyl)-1-(3-{[(4-methylphenyl)methylidene]amino}phenyl)prop-2-en-1-one (CHNO) and N-{3-[(2E)-3-(4-methylphenyl)prop-2-enoyl]phenyl}acetamide (CHNO), which are abbreviated as 3'-(N=CHCH-p-CH)-4-methylchalcone and 3'-(NHCOCH)-4-methylchalcone, respectively. Both chalcones represent the first reported acetamide-substituted and imino-substituted chalcone crystal structures, adding to the robust library of chalcone structures within the Cambridge Structural Database.
View Article and Find Full Text PDFRecent advances in the genetics of schizophrenia (SCZ) have identified rare variants that confer high disease risk, including a 1.6 Mb deletion at chromosome 3q29 with a staggeringly large effect size (O.R.
View Article and Find Full Text PDFFragile X Syndrome Patient-Derived Neurons Developing in the Mouse Brain Show FMR1-Dependent Phenotypes.
Biol Psychiatry
January 2023
Whitehead Institute for Biomedical Research, Cambridge, Massachusetts; Department of Biology, Massachusetts Institute of Technology, Cambridge, Massachusetts. Electronic address:
Background: Fragile X syndrome (FXS) is characterized by physical abnormalities, anxiety, intellectual disability, hyperactivity, autistic behaviors, and seizures. Abnormal neuronal development in FXS is poorly understood. Data on patients with FXS remain scarce, and FXS animal models have failed to yield successful therapies.
View Article and Find Full Text PDFIt Was the Aorta but Not a Dissection: Intramural Aorta Hematoma.
Am J Med
December 2022
Division of Cardiovascular Medicine, Department of Internal Medicine, University of California (Davis), Sacramento. Electronic address:
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