Shunji Tomatsu

Mice with mono-allelic p.R37H Dhdds variant show aberrant glycosylation and interneuron deficits

This study describes a mouse model of DHDDS-CDG, showing seizures, myoclonus, and cognitive deficits linked to glycosylation defects and interneuron abnormalities.

Synthetic analogue of adrenocorticotropic hormone, ACTH(4-7)PGP delays neurological manifestations in diseases of mucopolysaccharidosis III spectrum by reducing neuroinflammation and rescuing neurotransmission, synaptogenesis, and axonal demyelination

The paper tests a synthetic peptide ACTH(4-7)PGP in MPS III mouse models, showing it improves synaptic function, reduces neuroinflammation, and extends lifespan.

Secondary deficiency of neuraminidase 1 contributes to CNS pathology in neurological mucopolysaccharidoses via hypersialylation of brain glycoproteins

This study shows that reduced NEU1 activity in neurological MPS leads to hypersialylation of brain glycoproteins, contributing to CNS pathology through disrupted synaptogenesis and behavior.

Heterologous HSPC transplantation rescues neuroinflammation and ameliorates peripheral manifestations in the mouse model of lysosomal transmembrane enzyme deficiency, MPS IIIC.

This study shows that heterologous HSPC transplantation reduces neuroinflammation and improves peripheral symptoms in a mouse model of MPS IIIC, but does not correct lysosomal storage in neurons.

Human genome-edited hematopoietic stem cells phenotypically correct Mucopolysaccharidosis type I

This study uses CRISPR/Cas9 to edit hematopoietic stem cells to express iduronidase, correcting Mucopolysaccharidosis type I in mice.