Marshall Lukacs

A novel hypomorphic allele of Spag17 causes primary ciliary dyskinesia phenotypes in mice

This study identifies a hypomorphic Spag17 allele in mice that causes PCD-like phenotypes, revealing differential roles of SPAG17 in motile cilia development and hydrocephalus.

CNS Glycosylphosphatidylinositol Deficiency Results in Delayed White Matter Development, Ataxia, and Premature Death in a Novel Mouse Model

This study generates a novel mouse model of inherited GPI deficiency, showing delayed white matter development, ataxia, and premature death due to CNS-specific GPI biosynthesis disruption.

Glycosylphosphatidylinositol Biosynthesis and Remodeling are Required for Neural Crest Cell, Cardiac and Neural Development.

This study identifies a mouse mutant with a mutation in Pgap2, leading to reduced GPI surface expression and developmental defects, and shows folinic acid can rescue some phenotypes.

Severe Biallelic Loss-of-function Mutations in Nicotinamide Mononucleotide Adenylyltransferase 2 (NMNAT2) in Two Fetuses with Fetal Akinesia Deformation Sequence

The paper identifies biallelic NMNAT2 mutations in two fetuses with FADS, showing their role in axon survival and linking them to Wallerian degeneration.