Intermediate filament protein accumulation in motor neurons derived from giant axonal neuropathy iPSCs rescued by restoration of gigaxonin (Englisch)
- Neue Suche nach: Johnson-Kerner, B. L.
- Neue Suche nach: Ahmad, F. S.
- Neue Suche nach: Diaz, A. G.
- Neue Suche nach: Greene, J. P.
- Neue Suche nach: Gray, S. J.
- Neue Suche nach: Samulski, R. J.
- Neue Suche nach: Chung, W. K.
- Neue Suche nach: Van Coster, R.
- Neue Suche nach: Maertens, P.
- Neue Suche nach: Noggle, S. A.
- Neue Suche nach: Johnson-Kerner, B. L.
- Neue Suche nach: Ahmad, F. S.
- Neue Suche nach: Diaz, A. G.
- Neue Suche nach: Greene, J. P.
- Neue Suche nach: Gray, S. J.
- Neue Suche nach: Samulski, R. J.
- Neue Suche nach: Chung, W. K.
- Neue Suche nach: Van Coster, R.
- Neue Suche nach: Maertens, P.
- Neue Suche nach: Noggle, S. A.
In:
HUMAN MOLECULAR GENETICS
;
24
, 5
;
1420-1431
;
2015
-
ISSN:
- Aufsatz (Zeitschrift) / Print
-
Titel:Intermediate filament protein accumulation in motor neurons derived from giant axonal neuropathy iPSCs rescued by restoration of gigaxonin
-
Beteiligte:Johnson-Kerner, B. L. ( Autor:in ) / Ahmad, F. S. ( Autor:in ) / Diaz, A. G. ( Autor:in ) / Greene, J. P. ( Autor:in ) / Gray, S. J. ( Autor:in ) / Samulski, R. J. ( Autor:in ) / Chung, W. K. ( Autor:in ) / Van Coster, R. ( Autor:in ) / Maertens, P. ( Autor:in ) / Noggle, S. A. ( Autor:in )
-
Erschienen in:HUMAN MOLECULAR GENETICS ; 24, 5 ; 1420-1431
-
Verlag:
- Neue Suche nach: Oxford University Press
-
Erscheinungsdatum:01.01.2015
-
Format / Umfang:12 pages
-
ISSN:
-
Medientyp:Aufsatz (Zeitschrift)
-
Format:Print
-
Sprache:Englisch
- Neue Suche nach: 572.8
- Weitere Informationen zu Dewey Decimal Classification
-
Klassifikation:
DDC: 572.8 -
Datenquelle:
© Metadata Copyright the British Library Board and other contributors. All rights reserved.
Inhaltsverzeichnis – Band 24, Ausgabe 5
Zeige alle Jahrgänge und Ausgaben
Die Inhaltsverzeichnisse werden automatisch erzeugt und basieren auf den im Index des TIB-Portals verfügbaren Einzelnachweisen der enthaltenen Beiträge. Die Anzeige der Inhaltsverzeichnisse kann daher unvollständig oder lückenhaft sein.
- 1211
-
A knockin mouse model of spinocerebellar ataxia type 3 exhibits prominent aggregate pathology and aberrant splicing of the disease gene transcriptRamani, Biswarathan / Harris, Ginny M. / Huang, Rogerio / Seki, Takahiro / Murphy, Geoffrey G. / Costa, Maria do Carmo / Fischer, Svetlana / Saunders, Thomas L. / Xia, Guangbin / McEachin, Richard C. et al. | 2015
- 1225
-
Correlation between frequency of non-allelic homologous recombination and homology properties: evidence from homology-mediated CNV mutations in the human genomePeng, Zhen / Zhou, Weichen / Fu, Wenqing / Du, Renqian / Jin, Li / Zhang, Feng et al. | 2015
- 1234
-
Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defectsMcInerney-Leo, Aideen M. / Sparrow, Duncan B. / Harris, Jessica E. / Gardiner, Brooke B. / Marshall, Mhairi S. / O'Reilly, Victoria C. / Shi, Hongjun / Brown, Matthew A. / Leo, Paul J. / Zankl, Andreas et al. | 2015
- 1243
-
Utrophin A is essential in mediating the functional adaptations of mdx mouse muscle following chronic AMPK activationAl-Rewashdy, Hasanen / Ljubicic, Vladimir / Lin, Wei / Renaud, Jean-Marc / Jasmin, Bernard J. et al. | 2015
- 1256
-
Direct interplay between two candidate genes in FSHD muscular dystrophyFerri, Giulia / Huichalaf, Claudia H. / Caccia, Roberta / Gabellini, Davide et al. | 2015
- 1267
-
Becker muscular dystrophy severity is linked to the structure of dystrophinNicolas, Aurélie / Raguénès-Nicol, Céline / Ben Yaou, Rabah / Ameziane-Le Hir, Sarah / Chéron, Angélique / Vié, Véronique / Claustres, Mireille / Leturcq, France / Delalande, Olivier / Hubert, Jean-François et al. | 2015
- 1280
-
Glucocerebrosidase deficiency in zebrafish affects primary bone ossification through increased oxidative stress and reduced Wnt/?-catenin signalingZancan, I. / Bellesso, S. / Costa, R. / Salvalaio, M. / Stroppiano, M. / Hammond, C. / Argenton, F. / Filocamo, M. / Moro, E. et al. | 2015
- 1280
-
Glucocerebrosidase deficiency in zebrafish affects primary bone ossification through increased oxidative stress and reduced Wnt/{beta}-catenin signalingZancan, Ilaria / Bellesso, Stefania / Costa, Roberto / Salvalaio, Marika / Stroppiano, Marina / Hammond, Chrissy / Argenton, Francesco / Filocamo, Mirella / Moro, Enrico et al. | 2015
- 1295
-
Epigenetic germline mosaicism in infertile menLaurentino, Sandra / Beygo, Jasmin / Nordhoff, Verena / Kliesch, Sabine / Wistuba, Joachim / Borgmann, Jennifer / Buiting, Karin / Horsthemke, Bernhard / Gromoll, Jörg et al. | 2015
- 1305
-
Expression of progerin in aging mouse brains reveals structural nuclear abnormalities without detectible significant alterations in gene expression, hippocampal stem cells or behaviorBaek, Jean-Ha / Schmidt, Eva / Viceconte, Nikenza / Strandgren, Charlotte / Pernold, Karin / Richard, Thibaud J. C. / Van Leeuwen, Fred W. / Dantuma, Nico P. / Damberg, Peter / Hultenby, Kjell et al. | 2015
- 1322
-
Glutaredoxin deficiency exacerbates neurodegeneration in C. elegans models of Parkinson's diseaseJohnson, William M. / Yao, Chen / Siedlak, Sandra L. / Wang, Wenzhang / Zhu, Xiongwei / Caldwell, Guy A. / Wilson-Delfosse, Amy L. / Mieyal, John J. / Chen, Shu G. et al. | 2015
- 1336
-
LRRK2 overexpression alters glutamatergic presynaptic plasticity, striatal dopamine tone, postsynaptic signal transduction, motor activity and memoryBeccano-Kelly, Dayne A. / Volta, Mattia / Munsie, Lise N. / Paschall, Sarah A. / Tatarnikov, Igor / Co, Kimberley / Chou, Patrick / Cao, Li-Ping / Bergeron, Sabrina / Mitchell, Emma et al. | 2015
- 1350
-
Aged monkey brains reveal the role of ubiquitin-conjugating enzyme UBE2N in the synaptosomal accumulation of mutant huntingtinYin, Peng / Tu, Zhuchi / Yin, An / Zhao, Ting / Yan, Sen / Guo, Xiangyu / Chang, Renbao / Zhang, Lianhe / Hong, Yan / Huang, Xiahe et al. | 2015
- 1363
-
Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosisKaneb, Hannah M. / Folkmann, Andrew W. / Belzil, Véronique V. / Jao, Li-En / Leblond, Claire S. / Girard, Simon L. / Daoud, Hussein / Noreau, Anne / Rochefort, Daniel / Hince, Pascale et al. | 2015
- 1374
-
Indications for distinct pathogenic mechanisms of asbestos and silica through gene expression profiling of the response of lung epithelial cellsPerkins, Timothy N. / Peeters, Paul M. / Shukla, Arti / Arijs, Ingrid / Dragon, Julie / Wouters, Emiel F.M. / Reynaert, Niki L. / Mossman, Brooke T. et al. | 2015
- 1390
-
Selective disruption of Tcf7l2 in the pancreatic ? cell impairs secretory function and lowers ? cell massMitchell, R. K. / Mondragon, A. / Chen, L. / Mcginty, J. A. / French, P. M. / Ferrer, J. / Thorens, B. / Hodson, D. J. / Rutter, G. A. / Da Silva Xavier, G. et al. | 2015
- 1390
-
Selective disruption of Tcf7l2 in the pancreatic {beta} cell impairs secretory function and lowers {beta} cell massMitchell, Ryan K. / Mondragon, Angeles / Chen, Lingling / Mcginty, James A. / French, Paul M. / Ferrer, Jorge / Thorens, Bernard / Hodson, David J. / Rutter, Guy A. / Da Silva Xavier, Gabriela et al. | 2015
- 1400
-
Expression inactivation of SMARCA4 by microRNAs in lung tumorsCoira, Isabel F. / Rufino-Palomares, Eva E. / Romero, Octavio A. / Peinado, Paola / Metheetrairut, Chanatip / Boyero-Corral, Laura / Carretero, Julian / Farez-Vidal, Esther / Cuadros, Marta / Reyes-Zurita, Fernando J. et al. | 2015
- 1410
-
A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathiesShaheen, Ranad / Schmidts, Miriam / Faqeih, Eissa / Hashem, Amal / Lausch, Ekkehart / Holder, Isabel / Superti-Furga, Andrea / UK10K Consortium, / Mitchison, Hannah M. / Almoisheer, Agaadir et al. | 2015
- 1420
-
Intermediate filament protein accumulation in motor neurons derived from giant axonal neuropathy iPSCs rescued by restoration of gigaxoninJohnson-Kerner, Bethany L. / Ahmad, Faizzan S. / Diaz, Alejandro Garcia / Greene, John Palmer / Gray, Steven J. / Samulski, Richard Jude / Chung, Wendy K. / Van Coster, Rudy / Maertens, Paul / Noggle, Scott A. et al. | 2015
- 1432
-
Obesity and ischemic stroke modulate the methylation levels of KCNQ1 in white blood cellsGómez-Úriz, Ana M. / Milagro, Fermín I. / Mansego, María L. / Cordero, Paúl / Abete, Itziar / De Arce, Ana / Goyenechea, Estíbaliz / Blázquez, Vanessa / Martínez-Zabaleta, Maite / Martínez, José Alfredo et al. | 2015
- 1441
-
Epigenetic dysregulation of hairy and enhancer of split 4 (HES4) is associated with striatal degeneration in postmortem Huntington brainsBai, Guang / Cheung, Iris / Shulha, Hennady P. / Coelho, Joana E. / Li, Ping / Dong, Xianjun / Jakovcevski, Mira / Wang, Yumei / Grigorenko, Anastasia / Jiang, Yan et al. | 2015
- 1457
-
'Neonatal' Nav1.2 reduces neuronal excitability and affects seizure susceptibility and behaviourGazina, Elena V. / Leaw, Bryan T.W. / Richards, Kay L. / Wimmer, Verena C. / Kim, Tae H. / Aumann, Timothy D. / Featherby, Travis J. / Churilov, Leonid / Hammond, Vicki E. / Reid, Christopher A. et al. | 2015
- 1469
-
Genome-wide association study of selenium concentrationsCornelis, Marilyn C. / Fornage, Myriam / Foy, Millennia / Xun, Pengcheng / Gladyshev, Vadim N. / Morris, Steve / Chasman, Daniel I. / Hu, Frank B. / Rimm, Eric B. / Kraft, Peter et al. | 2015
- 1478
-
Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer riskPainter, Jodie N. / O'Mara, Tracy A. / Batra, Jyotsna / Cheng, Timothy / Lose, Felicity A. / Dennis, Joe / Michailidou, Kyriaki / Tyrer, Jonathan P. / Ahmed, Shahana / Ferguson, Kaltin et al. | 2015
- 1493
-
Identification of seven genes essential for male fertility through a genome-wide association study of non-obstructive azoospermia and RNA interference-mediated large-scale functional screening in DrosophilaYu, Jun / Wu, Hao / Wen, Yang / Liu, Yujuan / Zhou, Tao / Ni, Bixian / Lin, Yuan / Dong, Jing / Zhou, Zuomin / Hu, Zhibin et al. | 2015
- 1504
-
Whole-genome sequencing to understand the genetic architecture of common gene expression and biomarker phenotypesWood, Andrew R. / Tuke, Marcus A. / Nalls, Mike / Hernandez, Dena / Gibbs, J. Raphael / Lin, Haoxiang / Xu, Christopher S. / Li, Qibin / Shen, Juan / Jun, Goo et al. | 2015
- NP
-
Contents Page| 2015
- NP-a
-
Cover Page| 2015
- NP-b
-
Editorial Board| 2015
- NP-c
-
Subscription Page| 2015