Weichun Lin

Elevated mitochondrial metabolism in Down syndrome iPSCs reduces commitment to neuroectoderm

This study shows that increased mitochondrial metabolism in Down syndrome iPSCs impairs neuroectoderm commitment by reducing ciliation, and this effect can be reversed by inhibiting mitochondrial calcium uptake.

Loss of ACTA1 leads to delayed γ-AChR / ε-AChR switch in skeletal muscle in mice

This study shows that loss of ACTA1 in mice delays the switch from γ-AChR to ε-AChR at the neuromuscular junction, affecting postsynaptic receptor maturation despite normal presynaptic function.

Genetic Rescue of a Lethal Wasting Mutation (Syb1lew/lew) by Neuron-Specific Expression of ECFP-Syb2

The paper shows that neuron-specific expression of Syb2 rescues lethality and motor function in Syb1-deficient mice, demonstrating Syb2 can replace Syb1 in vivo.

KIAA1109 is required for survival and for normal development and function of the neuromuscular junction in mice

This paper shows that KIAA1109 is essential for mouse survival and proper neuromuscular junction development and function.

Structural and functional alterations of neuromuscular synapses in a mouse model of ACTA1 congenital myopathy

This study examines structural and functional changes in neuromuscular junctions of Acta1+/Ki mice, revealing impairments in synapse structure and transmission.