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Automating General Movements Assessment with quantitative deep learning to facilitate early screening of cerebral palsy
General Movements Assessment (GMA) is useful in early prediction of cerebral palsy but necessitates trained professionals. Here, the authors show a quantitative deep learning-based method to automate GMA with strong performance, adhering to GMA principles and exhibiting robust interpretability.
- Qiang Gao
- , Siqiong Yao
- & Hui Lu
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Article
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Treatment of monogenic and digenic dominant genetic hearing loss by CRISPR-Cas9 ribonucleoprotein delivery in vivo
Liposome-mediated gene editing was used to abolish a mutation in gene Atp2b2 and recover hearing in a mouse model of dominant deafness. Editing was also used to target two mutations to recover hearing. The study detected large deletions due to editing.
- Yong Tao
- , Veronica Lamas
- & Zheng-Yi Chen
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Article
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The cholesterol transporter NPC1 is essential for epigenetic regulation and maturation of oligodendrocyte lineage cells
Niemann-Pick type C disease is characterized by deficiency of the endolysosomal cholesterol transporter NPC1. Here, the authors show in Npc1−/− mice that loss of NPC1 impairs oligodendrocyte lineage cell differentiation and developmental myelination through perturbed epigenetic regulation.
- Thaddeus J. Kunkel
- , Alice Townsend
- & Andrew P. Lieberman
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Article
| Open Access
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines
Inherited disorders of neurotransmitter metabolism represent a group of rare neurometabolic diseases characterized by movement disorders and developmental delay. Here, the authors report a standardized evaluation of a registry of 275 patients from 42 countries, and highlight an evolving phenotypic spectrum of this disease group and factors influencing diagnostic processes.
- Oya Kuseyri Hübschmann
- , Gabriella Horvath
- & Thomas Opladen
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Article
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ABHD4-dependent developmental anoikis safeguards the embryonic brain
During embryonic development, neural progenitor cells undergo numerous cell divisions. Here, the authors show that ABHD4-mediated developmental anoikis distinguishes the physiological delamination and the pathological detachment of progenitor cells with relevance to fetal alcohol-induced apoptosis.
- Zsófia I. László
- , Zsolt Lele
- & István Katona
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Article
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Cognitive tutoring induces widespread neuroplasticity and remediates brain function in children with mathematical learning disabilities
Mathematical learning disabilities (MLD) affect up to 20% of children and are linked to poorer socioeconomic and health outcomes in adulthood. Here, Iuculano et al. show that tutoring induced functional changes in multiple brain systems underlie remediation of poor maths skills in children with MLD.
- Teresa Iuculano
- , Miriam Rosenberg-Lee
- & Vinod Menon
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Article
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Clinically relevant copy number variations detected in cerebral palsy
Cerebral palsy (CP) is a heterogeneous disorder that has been historically attributed to environmental factors with genetic contributions being discovered more recently. Here the authors perform microarray-based analysis of copy number variations in a cohort of children with CP and their parents and find chromosomal abnormalities linked to the disease.
- Maryam Oskoui
- , Matthew J. Gazzellone
- & Stephen W. Scherer
Upregulated pexophagy limits the capacity of selective autophagy