Christopher A. Ahern

Developmental Cerebellar Pathology in Mouse Models of SCN2A Premature Termination Codon Variants

This study examines cerebellar development in mouse models with SCN2A premature termination codon variants, finding age- and position-dependent effects on cerebellar structure and function.

Programmable Repair of Disease-Causing UGA Stop Codons in Mammalian Brain

This paper develops a method to repair UGA stop codons in mammalian brain using sup-tRNA and AAV vectors, showing efficacy with optimized delivery systems.

An atomic interaction conserved for over 600 million years gates inhibitory neurotransmission

The paper identifies a conserved atomic interaction in inhibitory neurotransmitter receptors that stabilizes channel gating and explains disease-linked mutations.

Molecular Basis of Sodium Channel Inactivation

The paper investigates the molecular mechanism of fast sodium channel inactivation using fluorescence spectroscopy and electrophysiology, proposing an alternative 'lock and key' model.

Position-dependent effects of SCN2A premature stop codons on neuronal excitability and behavior

This study shows that different SCN2A premature stop codons have distinct effects on neuronal function and behavior in mice, challenging the assumption of uniform haploinsufficiency.

Non-canonical Sodium Channel Isoforms Underlie Chamber Specific Cardiac Excitability

This study identifies chamber-specific contributions of non-NaV1.5 sodium channel isoforms to cardiac excitability using a chemical-genetic mouse model and electrophysiological recordings.

Prevenying vision loss in a mouse model of Leber Congenital Amaurosis by engineered tRNA

This study demonstrates that engineered tRNA can restore vision in a mouse model of Leber Congenital Amaurosis by suppressing a premature termination codon.

A single main-chain hydrogen bond required to keep GABAA receptors closed

The paper identifies a single main-chain hydrogen bond in the β2 subunit M2-M3 linker that inhibits GABAA receptor pore opening and is required to keep the unliganded channel closed.

PMP22 associates with MPZ via their transmembrane domains and disrupting this interaction causes a loss-of-function phenotype similar to hereditary neuropathy associated with liability to pressure palsies (HNPP).

This study identifies the molecular interaction between PMP22 and MPZ through their transmembrane domains and shows how disrupting this interaction causes a loss-of-function phenotype in hereditary neuropathy.

Structural context of homomeric interactions in the Ig domain of the MPZ (P0) myelin adhesion protein and relation to Charcot-Marie-Tooth disease phenotype variants

The paper investigates the structural context of homomeric interactions in the Ig domain of MPZ and their relation to CMT disease phenotypes using NMR and SAXS analysis.

Engineered transfer RNAs for suppression of premature termination codons

This paper identifies engineered transfer RNAs (ACE-tRNA) that suppress premature termination codons in mammalian cells and mice, showing high suppression activity for common disease-causing nonsense codons.

Engineered tRNA suppression of a CFTR nonsense mutation

This paper demonstrates the use of engineered tRNA to suppress a CFTR nonsense mutation, rescuing full-length protein function in a cystic fibrosis model.