The harlequin mouse mutation downregulates apoptosis-inducing factor

JA Klein, CM Longo-Guess, MP Rossmann, KL Seburn… - Nature, 2002 - nature.com
Harlequin (Hq) mutant mice have progressive degeneration of terminally differentiated
cerebellar and retinal neurons. We have identified the Hq mutation as a proviral insertion in the …

[PDF][PDF] An active dominant mutation of glycyl-tRNA synthetase causes neuropathy in a Charcot-Marie-Tooth 2D mouse model

KL Seburn, LA Nangle, GA Cox, P Schimmel… - Neuron, 2006 - cell.com
Of the many inherited Charcot-Marie-Tooth peripheral neuropathies, type 2D (CMT2D) is
caused by dominant point mutations in the gene GARS, encoding glycyl tRNA synthetase (…

Gait analysis detects early changes in transgenic SOD1 (G93A) mice

…, WN Frankel, GA Cox, KL Seburn - Muscle & Nerve …, 2005 - Wiley Online Library
The effective treatment or cure of motoneuron disease will require understanding the disease
processes that precede irreversible cell loss. To study these early stages, and to evaluate …

A novel mouse model of Niemann–Pick type C disease carrying a D1005G-Npc1 mutation comparable to commonly observed human mutations

…, B Wang, CM Wooley, KL Seburn… - Human molecular …, 2012 - academic.oup.com
We have identified a point mutation in Npc1 that creates a novel mouse model (Npc1 nmf164
) of Niemann–Pick type C1 (NPC) disease: a single nucleotide change (A to G at cDNA bp …

[HTML][HTML] Charcot-Marie-Tooth–linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levels

WW Motley, KL Seburn, MH Nawaz, KE Miers… - PLoS …, 2011 - journals.plos.org
Charcot-Marie-Tooth disease type 2D (CMT2D) is a dominantly inherited peripheral neuropathy
caused by missense mutations in the glycyl-tRNA synthetase gene (GARS). In addition …

Auditory brainstem responses in 10 inbred strains of mice

X Zhou, PHS Jen, KL Seburn, WN Frankel, QY Zheng - Brain research, 2006 - Elsevier
The auditory brainstem response (ABR) is an evoked potential response of auditory activity
in the auditory nerve and subsequent fiber tracts and nuclei within the auditory brainstem …

[HTML][HTML] Mutations in a P-type ATPase gene cause axonal degeneration

…, RS Smith, DL Wright, RT Bronson, KL Seburn… - 2012 - journals.plos.org
Neuronal loss and axonal degeneration are important pathological features of many
neurodegenerative diseases. The molecular mechanisms underlying the majority of axonal …

An ENU-induced mutation in mouse glycyl-tRNA synthetase (GARS) causes peripheral sensory and motor phenotypes creating a model of Charcot-Marie-Tooth type …

…, M Groves, CD Nickols, KL Seburn… - Disease models & …, 2009 - journals.biologists.com
Mutations in the enzyme glycyl-tRNA synthetase (GARS) cause motor and sensory axon
loss in the peripheral nervous system in humans, described clinically as Charcot-Marie-Tooth …

Synaptic deficits at neuromuscular junctions in two mouse models of Charcot–Marie–Tooth type 2d

…, MJ Pinter, RW Burgess, KL Seburn - Journal of …, 2016 - Soc Neuroscience
Patients with Charcot–Marie–Tooth Type 2D (CMT2D), caused by dominant mutations in
Glycl tRNA synthetase (GARS), present with progressive weakness, consistently in the hands, …

An assessment of mechanisms underlying peripheral axonal degeneration caused by aminoacyl-tRNA synthetase mutations

…, KE Miers, SL Ackerman, KL Seburn… - Molecular and Cellular …, 2011 - Elsevier
Mutations in glycyl-, tyrosyl-, and alanyl-tRNA synthetases (GARS, YARS and AARS
respectively) cause autosomal dominant Charcot–Marie–Tooth disease, and mutations in Gars …