Subject collection: Developmental Disorders
- Early evidence of delayed oligodendrocyte maturation in the mouse model of mucolipidosis type IV
Summary: We show that loss of the lysosomal channel TRPML1, responsible for mucolipidosis IV, leads to delayed maturation of oligodendrocytes in early postnatal development, resulting in brain hypomyelination.
- Daughterless, the Drosophila orthologue of TCF4, is required for associative learning and maintenance of the synaptic proteome
Summary: Human TCF4, a bHLH transcription factor, is associated with intellectual disability and schizophrenia. Here, we propose a Drosophila model for human disease studies using the fruit fly TCF4 orthologue, Daughterless.
- Temporal patterning in neural progenitors: from Drosophila development to childhood cancers
Summary: Temporal patterning is the mechanism by which neural progenitors change their competence and proliferative properties during development. Recent data suggest that co-opted temporal patterning could govern tumor growth in neural cancers with developmental origins.
- Human embryoid bodies as a 3D tissue model of the extracellular matrix and α-dystroglycanopathies
Summary: Human stem cell culture methods enable the generation of extracellular matrix-containing tissue to study patient-specific pathology and experimental treatment of the α-dystroglycanopathies.
- Frameshift mutations of YPEL3 alter the sensory circuit function in Drosophila
Summary: A Drosophila model of a human YPEL3 variant was generated and used to discover that the human variant alters neuronal communication through a loss-of-function mechanism.
- Deficiency in the endocytic adaptor proteins PHETA1/2 impairs renal and craniofacial development
Editor's choice: The functions of two endocytic adaptor proteins, PHETA1/2, are determined using zebrafish mutants and a potentially disease-causing variant of human PHETA1. Findings suggest essential roles in craniofacial and renal development.
- Modeling human epigenetic disorders in mice: Beckwith-Wiedemann syndrome and Silver-Russell syndrome
Summary: Beckwith-Wiedemann syndrome (BWS) and Silver-Russell syndrome (SRS) can be caused by various (epi)genetic lesions leading to the dysregulation of genomic imprinting. This Review focuses on the mouse models used to understand how such perturbations contribute to the human BWS/SRS phenotypes.
- Gallbladder wall abnormality in biliary atresia of mouse Sox17+/− neonates and human infants
Summary: Metaplastic gland formation in gallbladder walls is seen in both human BA and the mouse Sox17-haploinsufficient BA model, indicating its contribution to the pathogenesis of human BA.
- Arx expansion mutation perturbs cortical development by augmenting apoptosis without activating innate immunity in a mouse model of X-linked infantile spasms syndrome
Editor's choice: We found non-cell-autonomous apoptosis and fewer Arx+ interneurons in neonatal neocortex of an X-linked infantile spasms syndrome Arx expansion model. Early estradiol therapy rescued Arx+ interneuron density, but did not prevent apoptosis.