Search Results - "Bengoechea, Rocio"

p38 Mitogen-Activated Protein Kinase- and HuR-Dependent Stabilization of p21Cip1 mRNA Mediates the G1/S Checkpoint by Lafarga, Vanesa, Cuadrado, Ana, Lopez de Silanes, Isabel, Bengoechea, Rocio, Fernandez-Capetillo, Oscar, Nebreda, Angel R.

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Prion-like nuclear aggregation of TDP-43 during heat shock is regulated by HSP40/70 chaperones by Udan-Johns, Maria, Bengoechea, Rocio, Bell, Shaughn, Shao, Jieya, Diamond, Marc I, True, Heather L, Weihl, Conrad C, Baloh, Robert H

“…TDP-43 aggregation in the cytoplasm or nucleus is a key feature of the pathology of amyotrophic lateral sclerosis and frontotemporal dementia and is observed…”
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Myopathy associated BAG3 mutations lead to protein aggregation by stalling Hsp70 networks by Meister-Broekema, Melanie, Freilich, Rebecca, Jagadeesan, Chandhuru, Rauch, Jennifer N., Bengoechea, Rocio, Motley, William W., Kuiper, E. F. Elsiena, Minoia, Melania, Furtado, Gabriel V., van Waarde, Maria A. W. H., Bird, Shawn J., Rebelo, Adriana, Zuchner, Stephan, Pytel, Peter, Scherer, Steven S., Morelli, Federica F., Carra, Serena, Weihl, Conrad C., Bergink, Steven, Gestwicki, Jason E., Kampinga, Harm H.

“…BAG3 is a multi-domain hub that connects two classes of chaperones, small heat shock proteins (sHSPs) via two isoleucine-proline-valine (IPV) motifs and Hsp70…”
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Inhibition of DNAJ-HSP70 interaction improves strength in muscular dystrophy by Bengoechea, Rocio, Findlay, Andrew R, Bhadra, Ankan K, Shao, Hao, Stein, Kevin C, Pittman, Sara K, Daw, Jil Aw, Gestwicki, Jason E, True, Heather L, Weihl, Conrad C

“…Dominant mutations in the HSP70 cochaperone DNAJB6 cause a late-onset muscle disease termed limb-girdle muscular dystrophy type D1 (LGMDD1), which is…”
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Myopathy-causing Mutations in an HSP40 Chaperone Disrupt Processing of Specific Client Conformers by Stein, Kevin C., Bengoechea, Rocio, Harms, Matthew B., Weihl, Conrad C., True, Heather L.

“…The molecular chaperone network protects against the toxic misfolding and aggregation of proteins. Disruption of this network leads to a variety of protein…”
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Myofibrillar disruption and RNA-binding protein aggregation in a mouse model of limb-girdle muscular dystrophy 1D by Bengoechea, Rocio, Pittman, Sara K, Tuck, Elizabeth P, True, Heather L, Weihl, Conrad C

“…Limb-girdle muscular dystrophy type 1D (LGMD1D) is caused by dominantly inherited missense mutations in DNAJB6, an Hsp40 co-chaperone. LGMD1D muscle has rimmed…”
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Mutations in the J domain of DNAJB6 cause dominant distal myopathy by Palmio, Johanna, Jonson, Per Harald, Inoue, Michio, Sarparanta, Jaakko, Bengoechea, Rocio, Savarese, Marco, Vihola, Anna, Jokela, Manu, Nakagawa, Masanori, Noguchi, Satoru, Olivé, Montse, Masingue, Marion, Kerty, Emilia, Hackman, Peter, Weihl, Conrad C., Nishino, Ichizo, Udd, Bjarne

“…•Five families with dominant distal and LGMD are presented and clinically described.•Two novel disease-causing variants in the J domain of DNAJB6 are…”
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Genotype‒phenotype correlation in recessive DNAJB4 myopathy by Inoue, Michio, Jayaraman, Divya, Bengoechea, Rocio, Bhadra, Ankan, Genetti, Casie A, Aldeeri, Abdulrahman A, Turan, Betül, Pacheco-Orozco, Rafael Adrian, Al-Maawali, Almundher, Al Hashmi, Nadia, Zamani, Ayşe Gül, Göktaş, Emine, Pekcan, Sevgi, Çağlar, Hanife Tuğçe, True, Heather, Beggs, Alan H, Weihl, Conrad C

“…Protein aggregate myopathies can result from pathogenic variants in genes encoding protein chaperones. DNAJB4 is a cochaperone belonging to the heat shock…”
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LGMDD1 natural history and phenotypic spectrum: Implications for clinical trials by Findlay, Andrew R., Robinson, Sarah E., Poelker, Stephanie, Seiffert, Michelle, Bengoechea, Rocio, Weihl, Conrad C.

“…ABSTRACT Objective To delineate the full phenotypic spectrum and characterize the natural history of limb girdle muscular dystrophy type D1 (LGMDD1). Methods…”
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DNAJB6 isoform specific knockdown: Therapeutic potential for limb girdle muscular dystrophy D1 by Findlay, Andrew R., Paing, May M., Daw, Jil A., Haller, Meade, Bengoechea, Rocio, Pittman, Sara K., Li, Shan, Wang, Feng, Miller, Timothy M., True, Heather L., Chou, Tsui-Fen, Weihl, Conrad C.

“…Dominant missense mutations in DNAJB6, a co-chaperone of HSP70, cause limb girdle muscular dystrophy (LGMD) D1. No treatments are currently available. Two…”
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Hsp70 chaperones and type I PRMTs are sequestered at intranuclear inclusions caused by polyalanine expansions in PABPN1 by Tavanez, João Paulo, Bengoechea, Rocio, Berciano, Maria T, Lafarga, Miguel, Carmo-Fonseca, Maria, Enguita, Francisco J

“…Genomic instability at loci with tandem arrays of simple repeats is the cause for many neurological, neurodegenerative and neuromuscular diseases. When located…”
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Nucleolar targeting of coilin is regulated by its hypomethylation state by Tapia, Olga, Bengoechea, Rocio, Berciano, Maria T, Lafarga, Miguel

“…Coilin, a molecular marker for Cajal bodies (CBs), is a phosphoprotein that contains a cryptic nucleolar localization signal and multiple interacting domains,…”
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Characterization of a new SUMO-1 nuclear body (SNB) enriched in pCREB, CBP, c-Jun in neuron-like UR61 cells by Navascués, Joaquín, Bengoechea, Rocio, Tapia, Olga, Vaqué, José P, Lafarga, Miguel, Berciano, Maria T

“…The neuron-like UR61 cell is a stable PC12 subline that contains a mouse N-ras oncogene. Dexamethasone (Dex) treatment induces a neuron-like differentiation,…”
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TDP-43 localizes in mRNA transcription and processing sites in mammalian neurons by Casafont, Iñigo, Bengoechea, Rocío, Tapia, Olga, Berciano, María T., Lafarga, Miguel

“…TDP-43 is a RNA/DNA-binding protein structurally related to nuclear hnRNP proteins. Previous biochemical studies have shown that this nuclear protein plays a…”
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Reorganization of Cajal bodies and nucleolar targeting of coilin in motor neurons of type I spinal muscular atrophy by Tapia, Olga, Bengoechea, Rocío, Palanca, Ana, Arteaga, Rosa, Val-Bernal, J. Fernando, Tizzano, Eduardo F., Berciano, María T., Lafarga, Miguel

“…Type I spinal muscular atrophy (SMA) is an autosomal recessive disorder caused by loss or mutations of the survival motor neuron 1 ( SMN1 ) gene. The reduction…”
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Nuclear speckles are involved in nuclear aggregation of PABPN1 and in the pathophysiology of oculopharyngeal muscular dystrophy by Bengoechea, Rocío, Tapia, Olga, Casafont, Iñigo, Berciano, José, Lafarga, Miguel, Berciano, María T

“…Abstract Nuclear speckles are essential nuclear compartments involved in the assembly, delivery and recycling of pre-mRNA processing factors, and in the…”
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CBP-mediated SMN acetylation modulates Cajal body biogenesis and the cytoplasmic targeting of SMN by Lafarga, Vanesa, Tapia, Olga, Sharma, Sahil, Bengoechea, Rocio, Stoecklin, Georg, Lafarga, Miguel, Berciano, Maria T.

“…The survival of motor neuron (SMN) protein plays an essential role in the biogenesis of spliceosomal snRNPs and the molecular assembly of Cajal bodies (CBs)…”
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Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure by Weihl, Conrad C., Töpf, Ana, Bengoechea, Rocio, Duff, Jennifer, Charlton, Richard, Garcia, Solange Kapetanovic, Domínguez-González, Cristina, Alsaman, Abdulaziz, Hernández-Laín, Aurelio, Franco, Luis Varona, Sanchez, Monica Elizabeth Ponce, Beecroft, Sarah J., Goullee, Hayley, Daw, Jil, Bhadra, Ankan, True, Heather, Inoue, Michio, Findlay, Andrew R., Laing, Nigel, Olivé, Montse, Ravenscroft, Gianina, Straub, Volker

“…DNAJ/HSP40 co-chaperones are integral to the chaperone network, bind client proteins and recruit them to HSP70 for folding. We performed exome sequencing on…”
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Distinctive chaperonopathy in skeletal muscle associated with the dominant variant in DNAJB4 by Inoue, Michio, Noguchi, Satoru, Inoue, Yukiko U., Iida, Aritoshi, Ogawa, Megumu, Bengoechea, Rocio, Pittman, Sara K., Hayashi, Shinichiro, Watanabe, Kazuki, Hosoi, Yasushi, Sano, Terunori, Takao, Masaki, Oya, Yasushi, Takahashi, Yuji, Miyajima, Hiroaki, Weihl, Conrad C., Inoue, Takayoshi, Nishino, Ichizo

“…DnaJ homolog, subfamily B, member 4, a member of the heat shock protein 40 chaperones encoded by DNAJB4 , is highly expressed in myofibers. We identified a…”
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The SMN Tudor SIM-like domain is key to SmD1 and coilin interactions and to Cajal body biogenesis by Tapia, Olga, Lafarga, Vanesa, Bengoechea, Rocio, Palanca, Ana, Lafarga, Miguel, Berciano, María T

“…Cajal bodies (CBs) are nuclear organelles involved in the maturation of spliceosomal small nuclear ribonucleoproteins (snRNPs). They concentrate coilin, snRNPs…”
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