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Items: 1 to 20 of 58

1.
Case Report: A Novel Splice-Site Mutation in DNAJB6 Associated With Juvenile-Onset Proximal–Distal Myopathy in a Chinese Patient
Guang Ji, Ning Wang, Xu Han, Yaye Wang, Jinru Zhang, Yue Wu, Hongran Wu, Shaojuan Ma, Xueqin Song
Front Genet. 2022; 13: 925926. Published online 2022 Jun 23. doi: 10.3389/fgene.2022.925926
PMCID:
PMC9259785
ArticlePDF–2.2M
2.
Lithium chloride corrects weakness and myopathology in a preclinical model of LGMD1D
Andrew R. Findlay, Rocio Bengoechea, Sara K. Pittman, Tsui-Fen Chou, Heather L. True, Conrad C. Weihl
Neurol Genet. 2019 Apr; 5(2): e318. Published online 2019 Apr 18. doi: 10.1212/NXG.0000000000000318
PMCID:
PMC6510529
ArticlePDF–1.1M
3.
LGMD1D myopathy with cytoplasmic and nuclear inclusions in a Saudi family due to DNAJB6 mutation
SAEED A. BOHLEGA, SARAH ALFAWAZ, HUSSAM ABOU-AL-SHAAR, HINDI N. AL-HINDI, HATEM N. MURAD, MOHAMED S. BOHLEGA, BRIAN F. MEYER, DOROTA MONIES
Acta Myol. 2018 Sep; 37(3): 221–226. Published online 2018 Sep 1.
PMCID:
PMC6390114
ArticlePDF–514K
4.
Two Korean Families with Limb-Girdle Muscular Dystrophy Type 1D Associated with DNAJB6 Mutations
Kitae Kim, Hyung Jun Park, Jung Hwan Lee, Jiman Hong, Suk-Won Ahn, Young-Chul Choi
Yonsei Med J. 2018 Jul 1; 59(5): 698–701. Published online 2018 Jun 1. doi: 10.3349/ymj.2018.59.5.698
PMCID:
PMC5990685
ArticlePDF–1.0M
5.
Characteristic Posterior-dominant Lower Limb Muscle Involvement in Limb-girdle Muscular Dystrophy due to a DNAJB6 Phe93Leu Mutation
Yuta Kojima, Yu-ichi Noto, Daiki Takewaki, Naoki Tokuda, Kensuke Shiga, Ai Hamano, Ikuko Mizuta, Manabu Muranishi, Takashi Kasai, Masanori Nakagawa, Toshiki Mizuno
Intern Med. 2017 Sep 1; 56(17): 2347–2351. Published online 2017 Aug 10. doi: 10.2169/internalmedicine.6957-15
PMCID:
PMC5635313
ArticlePDF–765K
6.
DNAJB6 Myopathies: Focused Review on an Emerging and Expanding Group of Myopathies
Alessandra Ruggieri, Simona Saredi, Simona Zanotti, Maria Barbara Pasanisi, Lorenzo Maggi, Marina Mora
Front Mol Biosci. 2016; 3: 63. Published online 2016 Sep 30. doi: 10.3389/fmolb.2016.00063
PMCID:
PMC5043021
ArticlePDF–1.3M
7.
Diagnostically important muscle pathology in DNAJB6 mutated LGMD1D
Satu Sandell, Sanna Huovinen, Johanna Palmio, Olayinka Raheem, Mikaela Lindfors, Fang Zhao, Hannu Haapasalo, Bjarne Udd
Acta Neuropathol Commun. 2016; 4: 9. Published online 2016 Feb 5. doi: 10.1186/s40478-016-0276-9
PMCID:
PMC4743201
ArticlePDF–1.9M
8.
Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy
Alessandra Ruggieri, Francesco Brancati, Simona Zanotti, Lorenzo Maggi, Maria Barbara Pasanisi, Simona Saredi, Chiara Terracciano, Carlo Antozzi, Maria Rosaria D′Apice, Federica Sangiuolo, Giuseppe Novelli, Christian R. Marshall, Stephen W. Scherer, Lucia Morandi, Luca Federici, Roberto Massa, Marina Mora, Berge A. Minassian
Acta Neuropathol Commun. 2015; 3: 44. Published online 2015 Jul 25. doi: 10.1186/s40478-015-0224-0
PMCID:
PMC4513909
ArticlePDF–2.0M
9.
Myopathy-causing Mutations in an HSP40 Chaperone Disrupt Processing of Specific Client Conformers
Kevin C. Stein, Rocio Bengoechea, Matthew B. Harms, Conrad C. Weihl, Heather L. True
J Biol Chem. 2014 Jul 25; 289(30): 21120–21130. Published online 2014 Jun 11. doi: 10.1074/jbc.M114.572461
PMCID:
PMC4110315
ArticlePDF–2.0M
10.
Genetic basis of limb-girdle muscular dystrophies: the 2014 update
VINCENZO NIGRO, MARCO SAVARESE
Acta Myol. 2014 May; 33(1): 1–12.
PMCID:
PMC4021627
ArticlePDF–286K
11.
Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy
Jaakko Sarparanta, Per Harald Jonson, Christelle Golzio, Satu Sandell, Helena Luque, Mark Screen, Kristin McDonald, Jeffrey M. Stajich, Ibrahim Mahjneh, Anna Vihola, Olayinka Raheem, Sini Penttilä, Sara Lehtinen, Sanna Huovinen, Johanna Palmio, Giorgio Tasca, Enzo Ricci, Peter Hackman, Michael Hauser, Nicholas Katsanis, Bjarne Udd
Nat Genet. Author manuscript; available in PMC 2012 Oct 1.
Published in final edited form as: Nat Genet. 2012 Apr; 44(4): 450–S2. Published online 2012 Feb 26. doi: 10.1038/ng.1103
PMCID:
PMC3315599
ArticlePDF–517K
12.
DNAJB6 mutants display toxic gain of function through unregulated interaction with Hsp70 chaperones
Meital Abayev-Avraham, Yehuda Salzberg, Dar Gliksberg, Meital Oren-Suissa, Rina Rosenzweig
Nat Commun. 2023; 14: 7066. Published online 2023 Nov 3. doi: 10.1038/s41467-023-42735-z
PMCID:
PMC10624832
ArticlePDF–2.1M
13.
LGMDD1 natural history and phenotypic spectrum: Implications for clinical trials
Andrew R. Findlay, Sarah E. Robinson, Stephanie Poelker, Michelle Seiffert, Rocio Bengoechea, Conrad C. Weihl
Ann Clin Transl Neurol. 2023 Feb; 10(2): 181–194. Published online 2022 Nov 25. doi: 10.1002/acn3.51709
PMCID:
PMC9930420
ArticlePDF–2.2M
14.
Disease-associated mutations within the yeast DNAJB6 homolog Sis1 slow conformer-specific substrate processing and can be corrected by the modulation of nucleotide exchange factors
Ankan K. Bhadra, Michael J. Rau, Jil A. Daw, James A. J. Fitzpatrick, Conrad C. Weihl, Heather L. True
Nat Commun. 2022; 13: 4570. Published online 2022 Aug 5. doi: 10.1038/s41467-022-32318-9
PMCID:
PMC9355953
ArticlePDF–1.9M
15.
Clinical, pathological, imaging, and genetic characterization in a Taiwanese cohort with limb-girdle muscular dystrophy
Wen-Chen Liang, Yuh-Jyh Jong, Chien-Hua Wang, Chen-Hua Wang, Xia Tian, Wan-Zi Chen, Tzu-Min Kan, Narihiro Minami, Ichizo Nishino, Lee-Jun C. Wong
Orphanet J Rare Dis. 2020; 15: 160. Published online 2020 Jun 23. doi: 10.1186/s13023-020-01445-1
PMCID:
PMC7310488
ArticlePDF–2.0M
16.
Client processing is altered by novel myopathy-causing mutations in the HSP40 J domain
Melanie Y. Pullen, Conrad C. Weihl, Heather L. True
PLoS One. 2020; 15(6): e0234207. Published online 2020 Jun 4. doi: 10.1371/journal.pone.0234207
PMCID:
PMC7272046
ArticlePDF–2.0M
17.
Mutational spectrum of Chinese LGMD patients by targeted next-generation sequencing
Meng Yu, Yiming Zheng, Suqin Jin, Qiang Gang, Qingqing Wang, Peng Yu, He Lv, Wei Zhang, Yun Yuan, Zhaoxia Wang
PLoS One. 2017; 12(4): e0175343. Published online 2017 Apr 12. doi: 10.1371/journal.pone.0175343
PMCID:
PMC5389788
ArticlePDF–1.2M
18.
Exome Sequencing Identifies a DNAJB6 Mutation in a Family with Dominantly-Inherited Limb-Girdle Muscular Dystrophy
Julien Couthouis, Alya R. Raphael, Carly Siskind, Andrew R. Findlay, Jason D. Buenrostro, William J. Greenleaf, Hannes Vogel, John W. Day, Kevin M. Flanigan, Aaron D. Gitler
Neuromuscul Disord. Author manuscript; available in PMC 2015 May 1.
Published in final edited form as: Neuromuscul Disord. 2014 May; 24(5): 431–435. Published online 2014 Feb 10. doi: 10.1016/j.nmd.2014.01.014
PMCID:
PMC4013999
ArticlePDF–770K
19.
Inhibition of DNAJ-HSP70 interaction improves strength in muscular dystrophy
Rocio Bengoechea, Andrew R. Findlay, Ankan K. Bhadra, Hao Shao, Kevin C. Stein, Sara K. Pittman, Jil A.W. Daw, Jason E. Gestwicki, Heather L. True, Conrad C. Weihl
J Clin Invest. 2020 Aug 3; 130(8): 4470–4485. Published online 2020 Jul 20. doi: 10.1172/JCI136167
PMCID:
PMC7410071
ArticlePDF–16M
20.
Defining clinical endpoints in limb girdle muscular dystrophy: a GRASP-LGMD study
Amy Doody, Lindsay Alfano, Jordi Diaz-Manera, Linda Lowes, Tahseen Mozaffar, Katherine D. Mathews, Conrad C. Weihl, Matthew Wicklund, Man Hung, Jeffrey Statland, Nicholas E. Johnson, On behalf of the GRASP-LGMD Consortium
BMC Neurol. 2024; 24: 96. Published online 2024 Mar 15. doi: 10.1186/s12883-024-03588-1
PMCID:
PMC10941356
ArticlePDF–1.2M

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