Mina Zamani

A conserved cargo recognition mechanism establishes TANGO1 as a selective extracellular matrix cargo receptor

This study identifies TANGO1 as a selective ECM cargo receptor that directly recognizes specific collagen and fibrillin isoforms through a conserved tyrosine residue, independent of HSP47.

XPOT Deficiency causes a human disorder through impaired tRNA nuclear export

This study identifies XPOT deficiency as a human disorder causing immune defects, hearing loss, and developmental issues through impaired tRNA nuclear export.

Combinatorial transcriptional regulation establishes subtype-appropriate synaptic properties in auditory neurons

The paper shows that combinatorial Maf transcription factors establish subtype-specific synaptic properties in spiral ganglion neurons.

Biallelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a syndromic neurodevelopmental disorder

This study identifies biallelic TRMT1 variants causing a syndromic neurodevelopmental disorder through tRNA modification defects in humans and zebrafish.

RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS

The paper identifies SPOUT1/CENP-32 as a causative gene for SpADMiSS, linking its dysfunction to mitotic spindle defects and neurodevelopmental disorders.

Genetic Risk of Axonal Neuropathy Following Infection

The paper identifies biallelic RCC1 variants causing an acute axonal neuropathy triggered by infection, with mechanistic overlap with ALS and GBS.

PKHD1L1, A Gene Involved in the Stereocilia Coat, Causes Autosomal Recessive Nonsyndromic Hearing Loss

This study identifies PKHD1L1 as a cause of autosomal recessive nonsyndromic hearing loss through exome sequencing and functional analysis in human families and animal models.

Biallelic null variants in PNPLA8 cause microcephaly through the reduced abundance of basal radial glia

This study identifies biallelic PNPLA8 variants causing microcephaly by reducing basal radial glia in cerebral organoids and disrupting phospholipid metabolism.