Search Results - "SUMNER, Charlotte J"

Two breakthrough gene-targeted treatments for spinal muscular atrophy: challenges remain by Sumner, Charlotte J, Crawford, Thomas O

“…The motor neuron disease spinal muscular atrophy (SMA) is caused by recessive, loss-of-function mutations of the survival motor neuron 1 gene (SMN1). Alone,…”
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TRPV4-Rho GTPase complex structures reveal mechanisms of gating and disease by Kwon, Do Hoon, Zhang, Feng, McCray, Brett A., Feng, Shasha, Kumar, Meha, Sullivan, Jeremy M., Im, Wonpil, Sumner, Charlotte J., Lee, Seok-Yong

“…Crosstalk between ion channels and small GTPases is critical during homeostasis and disease, but little is known about the structural underpinnings of these…”
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Early Functional Impairment of Sensory-Motor Connectivity in a Mouse Model of Spinal Muscular Atrophy by Mentis, George Z., Blivis, Dvir, Liu, Wenfang, Drobac, Estelle, Crowder, Melissa E., Kong, Lingling, Alvarez, Francisco J., Sumner, Charlotte J., O'Donovan, Michael J.

“…To define alterations of neuronal connectivity that occur during motor neuron degeneration, we characterized the function and structure of spinal circuitry in…”
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The nonselective cation channel TRPV4 inhibits angiotensin II receptors by Zaccor, Nicholas W., Sumner, Charlotte J., Snyder, Solomon H.

“…G-protein–coupled receptors (GPCRs) are a ubiquitously expressed family of receptor proteins that regulate many physiological functions and other proteins…”
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Impaired Synaptic Vesicle Release and Immaturity of Neuromuscular Junctions in Spinal Muscular Atrophy Mice by Kong, Lingling, Wang, Xueyong, Choe, Dong W, Polley, Michelle, Burnett, Barrington G, Bosch-Marce, Marta, Griffin, John W, Rich, Mark M, Sumner, Charlotte J

“…The motor neuron disease spinal muscular atrophy (SMA) causes profound muscle weakness that most often leads to early death. At autopsy, SMA is characterized…”
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Crosstalk between regulatory elements in disordered TRPV4 N-terminus modulates lipid-dependent channel activity by Goretzki, Benedikt, Wiedemann, Christoph, McCray, Brett A., Schäfer, Stefan L., Jansen, Jasmin, Tebbe, Frederike, Mitrovic, Sarah-Ana, Nöth, Julia, Cabezudo, Ainara Claveras, Donohue, Jack K., Jeffries, Cy M., Steinchen, Wieland, Stengel, Florian, Sumner, Charlotte J., Hummer, Gerhard, Hellmich, Ute A.

“…Intrinsically disordered regions (IDRs) are essential for membrane receptor regulation but often remain unresolved in structural studies. TRPV4, a member of…”
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Neurofilament as a potential biomarker for spinal muscular atrophy by Darras, Basil T., Crawford, Thomas O., Finkel, Richard S., Mercuri, Eugenio, De Vivo, Darryl C., Oskoui, Maryam, Tizzano, Eduardo F., Ryan, Monique M., Muntoni, Francesco, Zhao, Guolin, Staropoli, John, McCampbell, Alexander, Petrillo, Marco, Stebbins, Christopher, Fradette, Stephanie, Farwell, Wildon, Sumner, Charlotte J.

“…Objective To evaluate plasma phosphorylated neurofilament heavy chain (pNF‐H) as a biomarker in spinal muscular atrophy (SMA). Methods Levels of pNF‐H were…”
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TRPV4 disrupts mitochondrial transport and causes axonal degeneration via a CaMKII-dependent elevation of intracellular Ca2 by Woolums, Brian M., McCray, Brett A., Sung, Hyun, Tabuchi, Masashi, Sullivan, Jeremy M., Ruppell, Kendra Takle, Yang, Yunpeng, Mamah, Catherine, Aisenberg, William H., Saavedra-Rivera, Pamela C., Larin, Bryan S., Lau, Alexander R., Robinson, Douglas N., Xiang, Yang, Wu, Mark N., Sumner, Charlotte J., Lloyd, Thomas E.

“…The cation channel transient receptor potential vanilloid 4 (TRPV4) is one of the few identified ion channels that can directly cause inherited…”
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Neuropathy-causing TRPV4 mutations disrupt TRPV4-RhoA interactions and impair neurite extension by McCray, Brett A., Diehl, Erika, Sullivan, Jeremy M., Aisenberg, William H., Zaccor, Nicholas W., Lau, Alexander R., Rich, Dominick J., Goretzki, Benedikt, Hellmich, Ute A., Lloyd, Thomas E., Sumner, Charlotte J.

“…TRPV4 is a cell surface-expressed calcium-permeable cation channel that mediates cell-specific effects on cellular morphology and function. Dominant missense…”
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Regulation of SMN Protein Stability by Burnett, Barrington G, Muñoz, Eric, Tandon, Animesh, Kwon, Deborah Y, Sumner, Charlotte J, Fischbeck, Kenneth H

“…Article Usage Stats Services MCB Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley…”
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Overexpression of IGF-1 in Muscle Attenuates Disease in a Mouse Model of Spinal and Bulbar Muscular Atrophy by Palazzolo, Isabella, Stack, Conor, Kong, Lingling, Musaro, Antonio, Adachi, Hiroaki, Katsuno, Masahisa, Sobue, Gen, Taylor, J. Paul, Sumner, Charlotte J., Fischbeck, Kenneth H., Pennuto, Maria

“…Expansion of a polyglutamine tract in the androgen receptor (AR) causes spinal and bulbar muscular atrophy (SBMA). We previously showed that Akt-mediated…”
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A TRPV Channel in Drosophila Motor Neurons Regulates Presynaptic Resting Ca2+ Levels, Synapse Growth, and Synaptic Transmission by Wong, Ching-On, Chen, Kuchuan, Lin, Yong Qi, Chao, Yufang, Duraine, Lita, Lu, Zhongmin, Yoon, Wan Hee, Sullivan, Jeremy M., Broadhead, Geoffrey T., Sumner, Charlotte J., Lloyd, Thomas E., Macleod, Gregory T., Bellen, Hugo J., Venkatachalam, Kartik

“…Presynaptic resting Ca2+ influences synaptic vesicle (SV) release probability. Here, we report that a TRPV channel, Inactive (Iav), maintains presynaptic…”
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Survival motor neuron protein deficiency impairs myotube formation by altering myogenic gene expression and focal adhesion dynamics by Bricceno, Katherine V, Martinez, Tara, Leikina, Evgenia, Duguez, Stephanie, Partridge, Terence A, Chernomordik, Leonid V, Fischbeck, Kenneth H, Sumner, Charlotte J, Burnett, Barrington G

“…While spinal muscular atrophy (SMA) is characterized by motor neuron degeneration, it is unclear whether and how much survival motor neuron (SMN) protein…”
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Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C by Sumner, Charlotte J, Landouré, Guida, Zdebik, Anselm A, Martinez, Tara L, Burnett, Barrington G, Stanescu, Horia C, Inada, Hitoshi, Shi, Yijun, Taye, Addis A, Kong, Lingling, Munns, Clare H, Choo, Shelly S, Phelps, Christopher B, Paudel, Reema, Houlden, Henry, Ludlow, Christy L, Caterina, Michael J, Gaudet, Rachelle, Kleta, Robert, Fischbeck, Kenneth H

“…Charcot-Marie-Tooth disease type 2C (CMT2C) is an autosomal dominant neuropathy characterized by limb, diaphragm and laryngeal muscle weakness. Two unrelated…”
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Improvement of neuromuscular synaptic phenotypes without enhanced survival and motor function in severe spinal muscular atrophy mice selectively rescued in motor neurons by Paez-Colasante, Ximena, Seaberg, Bonnie, Martinez, Tara L, Kong, Lingling, Sumner, Charlotte J, Rimer, Mendell

“…In the inherited childhood neuromuscular disease spinal muscular atrophy (SMA), lower motor neuron death and severe muscle weakness result from the reduction…”
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SMN Is Essential for the Biogenesis of U7 Small Nuclear Ribonucleoprotein and 3′-End Formation of Histone mRNAs by Tisdale, Sarah, Lotti, Francesco, Saieva, Luciano, Van Meerbeke, James P., Crawford, Thomas O., Sumner, Charlotte J., Mentis, George Z., Pellizzoni, Livio

“…Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by a deficiency in the survival motor neuron (SMN) protein. SMN mediates the assembly of…”
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Whole-body MR neurography: Prospective feasibility study in polyneuropathy and Charcot-Marie-Tooth disease by Chhabra, Avneesh, Carrino, John A., Farahani, Sahar J., Thawait, Gaurav K., Sumner, Charlotte J., Wadhwa, Vibhor, Chaudhary, Vinay, Lloyd, Thomas E.

“…Purpose To evaluate the feasibility of whole‐body magnetic resonance neurography (WBMRN) in polyneuropathy for technical feasibility, distribution of nerve…”
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Molecular Mechanisms of Spinal Muscular Atrophy by Sumner, Charlotte J.

“…Significant strides have been made during the past decade in the understanding of the molecular mechanisms that lead to the autosomal recessive motor neuron…”
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The GENDULF algorithm: mining transcriptomics to uncover modifier genes for monogenic diseases by Auslander, Noam, Ramos, Daniel M, Zelaya, Ivette, Karathia, Hiren, Crawford, Thomas O., Schäffer, Alejandro A, Sumner, Charlotte J, Ruppin, Eytan

“…Modifier genes are believed to account for the clinical variability observed in many Mendelian disorders, but their identification remains challenging due to…”
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Increased IGF-1 in muscle modulates the phenotype of severe SMA mice by BOSCH-MARCE, Marta, WEE, Claribel D, MARTINEZ, Tara L, LIPKES, Celeste E, CHOE, Dong W, LINGLING KONG, VAN MEERBEKE, James P, MUSARO, Antonio, SUMNER, Charlotte J

“…Spinal muscular atrophy (SMA) is an inherited motor neuron disease caused by the mutation of the survival motor neuron 1 (SMN1) gene and deficiency of the SMN…”
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