Search Results - "Sims, Katherine"

Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage by Smith, Katherine R., Damiano, John, Franceschetti, Silvana, Carpenter, Stirling, Canafoglia, Laura, Morbin, Michela, Rossi, Giacomina, Pareyson, Davide, Mole, Sara E., Staropoli, John F., Sims, Katherine B., Lewis, Jada, Lin, Wen-Lang, Dickson, Dennis W., Dahl, Hans-Henrik, Bahlo, Melanie, Berkovic, Samuel F.

“…We performed hypothesis-free linkage analysis and exome sequencing in a family with two siblings who had neuronal ceroid lipofuscinosis (NCL). Two linkage…”
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Activation of peroxisome proliferator-activated receptor α induces lysosomal biogenesis in brain cells: implications for lysosomal storage disorders by Ghosh, Arunava, Jana, Malabendu, Modi, Khushbu, Gonzalez, Frank J, Sims, Katherine B, Berry-Kravis, Elizabeth, Pahan, Kalipada

“…Lysosomes are ubiquitous membrane-enclosed organelles filled with an acidic interior and are central to the autophagic, endocytic, or phagocytic pathway. In…”
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Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis by Nosková, Lenka, Stránecký, Viktor, Hartmannová, Hana, Přistoupilová, Anna, Barešová, Veronika, Ivánek, Robert, Hůlková, Helena, Jahnová, Helena, van der Zee, Julie, Staropoli, John F., Sims, Katherine B., Tyynelä, Jaana, Van Broeckhoven, Christine, Nijssen, Peter C.G., Mole, Sara E., Elleder, Milan, Kmoch, Stanislav

“…Autosomal-dominant adult-onset neuronal ceroid lipofuscinosis (ANCL) is characterized by accumulation of autofluorescent storage material in neural tissues and…”
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Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society by Parikh, Sumit, Goldstein, Amy, Koenig, Mary Kay, Scaglia, Fernando, Enns, Gregory M., Saneto, Russell, Anselm, Irina, Cohen, Bruce H., Falk, Marni J., Greene, Carol, Gropman, Andrea L., Haas, Richard, Hirano, Michio, Morgan, Phil, Sims, Katherine, Tarnopolsky, Mark, Van Hove, Johan L.K., Wolfe, Lynne, DiMauro, Salvatore

“…Purpose: The purpose of this statement is to review the literature regarding mitochondrial disease and to provide recommendations for optimal diagnosis and…”
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Examining Predictors of Relationship Dissolution Among Unmarried Parents: Applying the Vulnerability-Stress-Adaptation Framework by Duncan, Jeneé C., Zhang, Xiaoya, Futris, Ted G., Sims, Katherine M.

“…Prior research has established that parents who are in a relationship, yet unmarried at the time of their child's birth, are at an increased risk of…”
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Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing by Consugar, Mark B., Navarro-Gomez, Daniel, Place, Emily M., Bujakowska, Kinga M., Sousa, Maria E., Fonseca-Kelly, Zoë D., Taub, Daniel G., Janessian, Maria, Wang, Dan Yi, Au, Elizabeth D., Sims, Katherine B., Sweetser, David A., Fulton, Anne B., Liu, Qin, Wiggs, Janey L., Gai, Xiaowu, Pierce, Eric A.

“…Next-generation sequencing–based methods are being adopted broadly for genetic diagnostic testing, but the performance characteristics of these techniques with…”
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Identification of Fabry Disease in a Tertiary Referral Cohort of Patients with Hypertrophic Cardiomyopathy by Maron, Martin S., Xin, Winnie, Sims, Katherine B., Butler, Rita, Haas, Tammy S., Rowin, Ethan J., Desnick, Robert J., Maron, Barry J.

“…Fabry disease is an X-linked lysosomal storage disorder caused by the deficient activity of α-galactosidase A due to mutations in the GLA gene, which may be…”
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Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway by Lojewski, Xenia, Staropoli, John F, Biswas-Legrand, Sunita, Simas, Alexandra M, Haliw, Larissa, Selig, Martin K, Coppel, Scott H, Goss, Kendrick A, Petcherski, Anton, Chandrachud, Uma, Sheridan, Steven D, Lucente, Diane, Sims, Katherine B, Gusella, James F, Sondhi, Dolan, Crystal, Ronald G, Reinhardt, Peter, Sterneckert, Jared, Schöler, Hans, Haggarty, Stephen J, Storch, Alexander, Hermann, Andreas, Cotman, Susan L

“…Neuronal ceroid lipofuscinosis (NCL) comprises ∼13 genetically distinct lysosomal disorders primarily affecting the central nervous system. Here we report…”
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OsARF11 Promotes Growth, Meristem, Seed, and Vein Formation during Rice Plant Development by Sims, Katherine, Abedi-Samakush, Fatemeh, Szulc, Nicole, Macias Honti, Monika Gyongyi, Mattsson, Jim

“…The plant hormone auxin acts as a mediator providing positional instructions in a range of developmental processes. Studies in L. show that auxin acts in large…”
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A Homozygous Mutation in KCTD7 Links Neuronal Ceroid Lipofuscinosis to the Ubiquitin-Proteasome System by Staropoli, John F., Karaa, Amel, Lim, Elaine T., Kirby, Andrew, Elbalalesy, Naser, Romansky, Stephen G., Leydiker, Karen B., Coppel, Scott H., Barone, Rosemary, Xin, Winnie, MacDonald, Marcy E., Abdenur, Jose E., Daly, Mark J., Sims, Katherine B., Cotman, Susan L.

“…Neuronal ceroid lipofuscinosis (NCL) is a genetically heterogeneous group of lysosomal diseases that collectively compose the most common Mendelian form of…”
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TPP1 deficiency: Rare cause of isolated childhood-onset progressive ataxia by Dy, Marisela E, Sims, Katherine B, Friedman, Jennifer

“…Neuronal ceroid lipofuscinoses (NCLs) are neurodegenerative disorders characterized by lysosomal ceroid deposition. Historically, NCLs were classified by onset…”
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plasma signature of human mitochondrial disease revealed through metabolic profiling of spent media from cultured muscle cells by Shaham, Oded, Slate, Nancy G, Goldberger, Olga, Xu, Qiuwei, Ramanathan, Arvind, Souza, Amanda L, Clish, Clary B, Sims, Katherine B, Mootha, Vamsi K

“…Mutations in either the mitochondrial or nuclear genomes can give rise to respiratory chain disease (RCD), a large class of devastating metabolic disorders…”
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Targeted exome sequencing of suspected mitochondrial disorders by Lieber, Daniel S, Calvo, Sarah E, Shanahan, Kristy, Slate, Nancy G, Liu, Shangtao, Hershman, Steven G, Gold, Nina B, Chapman, Brad A, Thorburn, David R, Berry, Gerard T, Schmahmann, Jeremy D, Borowsky, Mark L, Mueller, David M, Sims, Katherine B, Mootha, Vamsi K

“…OBJECTIVE:To evaluate the utility of targeted exome sequencing for the molecular diagnosis of mitochondrial disorders, which exhibit marked phenotypic and…”
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Proteomic Analysis of Brain and Cerebrospinal Fluid from the Three Major Forms of Neuronal Ceroid Lipofuscinosis Reveals Potential Biomarkers by Sleat, David E, Tannous, Abla, Sohar, Istvan, Wiseman, Jennifer A, Zheng, Haiyan, Qian, Meiqian, Zhao, Caifeng, Xin, Winnie, Barone, Rosemary, Sims, Katherine B, Moore, Dirk F, Lobel, Peter

“…Clinical trials have been conducted for the neuronal ceroid lipofuscinoses (NCLs), a group of neurodegenerative lysosomal diseases that primarily affect…”
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Powering the Immune System: Mitochondria in Immune Function and Deficiency by Walter, Jolan E., Sims, Katherine B., Volpi, Stefano, Walker, Melissa A., Traggiai, Elisabetta

“…Mitochondria are critical subcellular organelles that are required for several metabolic processes, including oxidative phosphorylation, as well as signaling…”
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Determinants of white matter hyperintensity burden in patients with Fabry disease by Rost, Natalia S, Cloonan, Lisa, Kanakis, Allison S, Fitzpatrick, Kaitlin M, Azzariti, Danielle R, Clarke, Virginia, Lourenco, Charles M, Germain, Dominique P, Politei, Juan M, Homola, György A, Sommer, Claudia, Üçeyler, Nurcan, Sims, Katherine B

“…OBJECTIVE:Using a semiautomated volumetric MRI assessment method, we aimed to identify determinants of white matter hyperintensity (WMH) burden in patients…”
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Open-label extension study following the Late-Onset Treatment Study (LOTS) of alglucosidase alfa by van der Ploeg, Ans T., Barohn, Richard, Carlson, Lisa, Charrow, Joel, Clemens, Paula R., Hopkin, Robert J., Kishnani, Priya S., Laforêt, Pascal, Morgan, Claire, Nations, Sharon, Pestronk, Alan, Plotkin, Horacio, Rosenbloom, Barry E., Sims, Katherine B., Tsao, Elisa

“…Late-onset Pompe disease is a progressive, debilitating, and often fatal neuromuscular disorder resulting from the deficiency of a lysosomal enzyme, acid…”
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Neuronal Ceroid Lipofuscinosis: Impact of Recent Genetic Advances and Expansion of the Clinicopathologic Spectrum by Cotman, Susan L., Karaa, Amel, Staropoli, John F., Sims, Katherine B.

“…Neuronal ceroid lipofuscinosis (NCL), first clinically described in 1826 and pathologically defined in the 1960s, refers to a group of disorders mostly…”
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Enzyme replacement therapy stabilized white matter lesion progression in Fabry disease by Fellgiebel, Andreas, Gartenschläger, Martin, Wildberger, Kerstin, Scheurich, Armin, Desnick, Robert J, Sims, Katherine

“…The central nervous system manifestations in Fabry disease (FD) include progressive white matter lesions (WMLs) and stroke. Due to progressive microvascular…”
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Angiogenin loss-of-function mutations in amyotrophic lateral sclerosis by Wu, David, Yu, Wenhao, Kishikawa, Hiroko, Folkerth, Rebecca D., Iafrate, A. John, Shen, Yiping, Xin, Winnie, Sims, Katherine, Hu, Guo-fu

“…Objective Heterozygous missense mutations in the coding region of angiogenin (ANG), an angiogenic ribonuclease, have been reported in amyotrophic lateral…”
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