Brett A. McCray
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View article: Association of the Recurrent <i>ATP1</i> <i>A1</i> Variant p.Gly549Arg With Intermediate CMT and Loss of Na,K-ATPase Function
Association of the Recurrent <i>ATP1</i> <i>A1</i> Variant p.Gly549Arg With Intermediate CMT and Loss of Na,K-ATPase Function Open
Our results demonstrate that the pathogenic nature of this variant causes considerable loss of function due to diminished plasma membrane localization and kinetic impairments on the enzyme, without obvious dominant-negative effects. Our fi…
View article: Atypical diabetic neuropathies
Atypical diabetic neuropathies Open
Diabetes is one of the most common conditions in the world and is associated with a broad range of adverse effects in multiple organ systems. Roughly half of all patients with diabetes will develop a typical distal, symmetric polyneuropath…
View article: Exploring P2X7 receptor antagonism as a therapeutic target for neuroprotection in an hiPSC motor neuron model
Exploring P2X7 receptor antagonism as a therapeutic target for neuroprotection in an hiPSC motor neuron model Open
ATP is present in negligible concentrations in the interstitium of healthy tissues but accumulates to significantly higher concentrations in an inflammatory microenvironment. ATP binds to 2 categories of purine receptors on the surface of …
View article: Combined clinical, structural and cellular studies discriminate pathogenic and benign TRPV4 variants
Combined clinical, structural and cellular studies discriminate pathogenic and benign TRPV4 variants Open
Dominant mutations in the calcium-permeable ion channel TRPV4 (transient receptor potential vanilloid 4) cause diverse and largely distinct channelopathies, including inherited forms of neuromuscular disease, skeletal dysplasias and arthro…
View article: Gain-of-function mutations of TRPV4 acting in endothelial cells drive blood-CNS barrier breakdown and motor neuron degeneration in mice
Gain-of-function mutations of TRPV4 acting in endothelial cells drive blood-CNS barrier breakdown and motor neuron degeneration in mice Open
Blood-CNS barrier disruption is a hallmark of numerous neurological disorders, yet whether barrier breakdown is sufficient to trigger neurodegenerative disease remains unresolved. Therapeutic strategies to mitigate barrier hyperpermeabilit…
View article: Crosstalk between regulatory elements in disordered TRPV4 N-terminus modulates lipid-dependent channel activity
Crosstalk between regulatory elements in disordered TRPV4 N-terminus modulates lipid-dependent channel activity Open
Intrinsically disordered regions (IDRs) are essential for membrane receptor regulation but often remain unresolved in structural studies. TRPV4, a member of the TRP vanilloid channel family involved in thermo- and osmosensation, has a larg…
View article: TRPV4-Rho GTPase complex structures reveal mechanisms of gating and disease
TRPV4-Rho GTPase complex structures reveal mechanisms of gating and disease Open
View article: Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to <i>GJB1</i> variants
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to <i>GJB1</i> variants Open
Charcot-Marie-Tooth disease (CMT) due to GJB1 variants (CMTX1) is the second most common form of CMT. It is an X-linked disorder characterized by progressive sensory and motor neuropathy with males affected more severely than females. Many…
View article: MD simulations for "TRPV4-Rho GTPase complex structures reveal mechanisms of gating and disease"
MD simulations for "TRPV4-Rho GTPase complex structures reveal mechanisms of gating and disease" Open
MD simulations for publication "TRPV4-Rho GTPase complex structures reveal mechanisms of gating and disease" on Nature Communications. Initial and last system snapshots of 8 simulation systems are pro…
View article: Structural insights into TRPV4-Rho GTPase signaling complex function and disease
Structural insights into TRPV4-Rho GTPase signaling complex function and disease Open
Crosstalk between ion channels and small GTPases is critical during homeostasis and disease 1 , but little is known about the structural underpinnings of these interactions. TRPV4 is a polymodal, calcium-permeable cation channel that has e…
View article: Crosstalk between regulatory elements in the disordered TRPV4 N-terminus modulates lipid-dependent channel activity
Crosstalk between regulatory elements in the disordered TRPV4 N-terminus modulates lipid-dependent channel activity Open
Intrinsically disordered regions (IDRs) are essential for membrane receptor regulation but often remain unresolved in structural studies. TRPV4, a member of the TRP vanilloid channel family involved in thermo- and osmosensation, has a larg…
View article: TRPV4: A trigger of pathological RhoA activation in neurological disease
TRPV4: A trigger of pathological RhoA activation in neurological disease Open
Transient receptor potential vanilloid 4 (TRPV4), a member of the TRP superfamily, is a broadly expressed, cell surface‐localized cation channel that is activated by a variety of environmental stimuli. Importantly, TRPV4 has been increasin…
View article: Multiubiquitination of TRPV4 reduces channel activity independent of surface localization
Multiubiquitination of TRPV4 reduces channel activity independent of surface localization Open
View article: <scp>TRPV4</scp> mutations causing mixed neuropathy and skeletal phenotypes result in severe gain of function
<span>TRPV4</span> mutations causing mixed neuropathy and skeletal phenotypes result in severe gain of function Open
Objective Distinct dominant mutations in the calcium‐permeable ion channel TRPV4 (transient receptor potential vanilloid 4) typically cause nonoverlapping diseases of either the neuromuscular or skeletal systems. However, accumulating evid…
View article: Axonal Charcot-Marie-Tooth Disease: from Common Pathogenic Mechanisms to Emerging Treatment Opportunities
Axonal Charcot-Marie-Tooth Disease: from Common Pathogenic Mechanisms to Emerging Treatment Opportunities Open
View article: Neuropathy-causing TRPV4 mutations disrupt TRPV4-RhoA interactions and impair neurite extension
Neuropathy-causing TRPV4 mutations disrupt TRPV4-RhoA interactions and impair neurite extension Open
TRPV4 is a cell surface-expressed calcium-permeable cation channel that mediates cell-specific effects on cellular morphology and function. Dominant missense mutations of TRPV4 cause distinct, tissue-specific diseases, but the pathogenic m…
View article: Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study Open
Mitofusin-2 (MFN2) is one of two ubiquitously expressed homologous proteins in eukaryote cells, playing a critical role in mitochondrial fusion. Mutations in MFN2 (most commonly autosomal dominant) cause Charcot-Marie-Tooth disease type 2A…
View article: Assessing non-Mendelian inheritance in inherited axonopathies
Assessing non-Mendelian inheritance in inherited axonopathies Open
View article: TRPV4 disrupts mitochondrial transport and causes axonal degeneration via a CaMKII-dependent elevation of intracellular Ca2+
TRPV4 disrupts mitochondrial transport and causes axonal degeneration via a CaMKII-dependent elevation of intracellular Ca2+ Open
View article: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes
Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes Open
View article: Novel hemizygous nonsense mutation in <i>DRP2</i> is associated with inherited neuropathy
Novel hemizygous nonsense mutation in <i>DRP2</i> is associated with inherited neuropathy Open
Mutations in DRP2 (OMIM #300052) encoding dystrophin-related protein 2, a 957 amino acid protein, were identified in a single patient with X-linked Charcot-Marie-Tooth (CMT) disease and are associated with familial autism.1,2 DRP2 is predo…
View article: Clinical Reasoning: A 57-year-old woman who developed acute amnesia following fever and upper respiratory symptoms
Clinical Reasoning: A 57-year-old woman who developed acute amnesia following fever and upper respiratory symptoms Open
A 57-year-old woman with a history of depression and hyperlipidemia presented with 2 days of confusion and memory loss. Four days prior to presentation, she developed fevers, myalgias, and rhinorrhea. On the day prior to presentation, the …
View article: Network Analyses Reveal Novel Aspects of ALS Pathogenesis
Network Analyses Reveal Novel Aspects of ALS Pathogenesis Open
Amyotrophic Lateral Sclerosis (ALS) is a fatal neurodegenerative disease characterized by selective loss of motor neurons, muscle atrophy and paralysis. Mutations in the human VAMP-associated protein B (hVAPB) cause a heterogeneous group o…