[HTML][HTML] Exome sequencing of individuals with Huntington's disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset

…, J Stone, S Lobanov, L Elliston, LN Schuhmacher… - Nature …, 2022 - nature.com
The age at onset of motor symptoms in Huntington’s disease (HD) is driven by HTT CAG
repeat length but modified by other genes. In this study, we used exome sequencing of 683 …

[HTML][HTML] ASICs and mammalian mechanoreceptor function

D Omerbašić, LN Schuhmacher, YAB Sierra… - …, 2015 - Elsevier
It is well established that some members of the Deg/ENaC super family of amiloride sensitive
ion channels can participate directly in the transduction of mechanical stimuli by sensory …

The naked mole-rat as an animal model in biomedical research: current perspectives

LN Schuhmacher, Z Husson… - Open Access Animal …, 2015 - Taylor & Francis
The naked mole-rat (NMR) is a subterranean rodent that has gained significant attention from
the biomedical research community in recent years as molecular mechanisms underlying …

[HTML][HTML] Expression of acid-sensing ion channels and selection of reference genes in mouse and naked mole rat

LN Schuhmacher, ESJ Smith - Molecular Brain, 2016 - Springer
Acid-sensing ion channels (ASICs) are a family of ion channels comprised of six subunits
encoded by four genes and they are expressed throughout the peripheral and central nervous …

Cavefish eye loss in response to an early block in retinal differentiation progression

M Stemmer, LN Schuhmacher, NS Foulkes… - …, 2015 - journals.biologists.com
The troglomorphic phenotype shared by diverse cave-dwelling animals is regarded as a
classical example of convergent evolution. One unresolved question is whether the …

[HTML][HTML] Notum deacylates octanoylated ghrelin

Y Zhao, LN Schuhmacher, M Roberts, S Kakugawa… - Molecular …, 2021 - Elsevier
Objectives The only proteins known to be modified by O-linked lipidation are Wnts and
ghrelin, and enzymatic removal of this post-translational modification inhibits ligand activity. …

Progenitors oppositely polarize WNT activators and inhibitors to orchestrate tissue development

…, J de la Cruz-Racelis, LN Schuhmacher… - Elife, 2020 - elifesciences.org
To spatially co-exist and differentially specify fates within developing tissues, morphogenetic
cues must be correctly positioned and interpreted. Here, we investigate mouse hair follicle …

[PDF][PDF] S-acylation of the Wnt receptor Frizzled-5 by zDHHC5 controls its cellular localization and synaptogenic activity in the rodent hippocampus

…, P Pascual-Vargas, ME Jones, LN Schuhmacher… - Developmental Cell, 2023 - cell.com
Proper localization of receptors for synaptic organizing factors is crucial for synapse formation.
Wnt proteins promote synapse assembly through Frizzled (Fz) receptors. In hippocampal …

[HTML][HTML] Naked mole-rat acid-sensing ion channel 3 forms nonfunctional homomers, but functional heteromers

LN Schuhmacher, G Callejo, S Srivats… - Journal of Biological …, 2018 - ASBMB
Acid-sensing ion channels (ASICs) form both homotrimeric and heterotrimeric ion channels
that are activated by extracellular protons and are involved in a wide range of physiological …

Structural domains underlying the activation of acid-sensing ion channel 2a

LN Schuhmacher, S Srivats, ESJ Smith - Molecular pharmacology, 2015 - ASPET
The acid-sensing ion channels (ASICs) are a family of ion channels expressed throughout
the mammalian nervous system. The principal activator of ASICs is extracellular protons, and …