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Items: 1 to 20 of 500

1.
Lamin B1 Accumulation’s Effects on Autosomal Dominant Leukodystrophy (ADLD): Induction of Reactivity in the Astrocytes
Stefano Ratti, Isabella Rusciano, Sara Mongiorgi, Irene Neri, Alessandra Cappellini, Pietro Cortelli, Pann-Ghill Suh, James A. McCubrey, Lucia Manzoli, Lucio Cocco, Giulia Ramazzotti
Cells. 2021 Oct; 10(10): 2566. Published online 2021 Sep 28. doi: 10.3390/cells10102566
PMCID:
PMC8534128
AbstractArticlePDF–2.5M
2.
MR Characteristics and Neuropathology in Adult-Onset Autosomal Dominant Leukodystrophy with Autonomic Symptoms
A. Melberg, L. Hallberg, H. Kalimo, R. Raininko
AJNR Am J Neuroradiol. 2006 Apr; 27(4): 904–911.
PMCID:
PMC8133955
AbstractArticlePDF–730K
3.
N‐CAM Dysfunction and Unexpected Accumulation of PSA‐NCAM in Brain of Adult‐Onset Autosomal‐Dominant Leukodystrophy
Marco Piccinini, Barbara Buccinnà, Giovanni De Marco, Elisa Lupino, Cristina Ramondetti, Silvia Grifoni, Barbara Votta, Maria Teresa Giordana, Maria Teresa Rinaudo
Brain Pathol. 2010 Mar; 20(2): 431–440. Published online 2009 Jun 25. doi: 10.1111/j.1750-3639.2009.00313.x
PMCID:
PMC8094802
AbstractArticlePDF–397K
4.
Cell signaling pathways in autosomal-dominant leukodystrophy (ADLD): the intriguing role of the astrocytes
Stefano Ratti, Isabella Rusciano, Sara Mongiorgi, Eric Owusu Obeng, Alessandra Cappellini, Gabriella Teti, Mirella Falconi, Lia Talozzi, Sabina Capellari, Anna Bartoletti-Stella, Pietro Guaraldi, Pietro Cortelli, Pann-Ghill Suh, Lucio Cocco, Lucia Manzoli, Giulia Ramazzotti
Cell Mol Life Sci. 2021 Mar; 78(6): 2781–2795. Published online 2020 Oct 9. doi: 10.1007/s00018-020-03661-1
PMCID:
PMC8004488
AbstractArticlePDF–1.9M
5.
MR Imaging Characteristics and Neuropathology of the Spinal Cord in Adult-Onset Autosomal Dominant Leukodystrophy with Autonomic Symptoms
J. Sundblom, A. Melberg, H. Kalimo, A. Smits, R. Raininko
AJNR Am J Neuroradiol. 2009 Feb; 30(2): 328–335. doi: 10.3174/ajnr.A1354
PMCID:
PMC7051393
AbstractArticle
6.
LMNB1-Related Adult-Onset Autosomal Dominant Leukodystrophy Presenting as Movement Disorder: A Case Report and Review of the Literature
Yanyan Zhang, Jie Li, Rong Bai, Jianping Wang, Tao Peng, Lijie Chen, Jingtao Wang, Yanru Liu, Tian Tian, Hong Lu
Front Neurosci. 2019; 13: 1030. Published online 2019 Oct 21. doi: 10.3389/fnins.2019.01030
PMCID:
PMC6816284
AbstractArticlePDF–4.5M
7.
An LMNB1 Duplication Caused Adult-Onset Autosomal Dominant Leukodystrophy in Chinese Family: Clinical Manifestations, Neuroradiology and Genetic Diagnosis
Yi Dai, Yaling Ma, Shengde Li, Santasree Banerjee, Shengran Liang, Qing Liu, Yinchang Yang, Bin Peng, Liying Cui, Liri Jin
Front Mol Neurosci. 2017; 10: 215. Published online 2017 Jul 18. doi: 10.3389/fnmol.2017.00215
PMCID:
PMC5513940
AbstractArticlePDF–1.7M
8.
A multiple sclerosis‐like disorder in patients with OPA1 mutations
Patrick Yu‐Wai‐Man, Achillefs Spyropoulos, Holly J. Duncan, Joseph V. Guadagno, Patrick F. Chinnery
Ann Clin Transl Neurol. 2016 Sep; 3(9): 723–729. Published online 2016 Jul 19. doi: 10.1002/acn3.323
PMCID:
PMC5018584
AbstractArticlePDF–407K
9.
A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD)
Elisa Giorgio, Daniel Robyr, Malte Spielmann, Enza Ferrero, Eleonora Di Gregorio, Daniele Imperiale, Giovanna Vaula, Georgios Stamoulis, Federico Santoni, Cristiana Atzori, Laura Gasparini, Denise Ferrera, Claudio Canale, Michel Guipponi, Len A. Pennacchio, Stylianos E. Antonarakis, Alessandro Brussino, Alfredo Brusco
Hum Mol Genet. 2015 Jun 1; 24(11): 3143–3154. Published online 2015 Feb 20. doi: 10.1093/hmg/ddv065
PMCID:
PMC4424952
AbstractArticlePDF–621K
10.
ADLD: A Novel Graphical Representation of Protein Sequences and Its Application
Lei Wang, Hui Peng, Jinhua Zheng
Comput Math Methods Med. 2014; 2014: 959753. Published online 2014 Oct 30. doi: 10.1155/2014/959753
PMCID:
PMC4230005
AbstractArticlePDF–956K
11.
Genetic and pharmacological modulation of lamin A farnesylation determines its function and turnover
Mattheus Xing Rong Foo, Peh Fern Ong, Zi Xuan Yap, Martina Maric, Christopher Jue Shi Bong, Peter Dröge, Brian Burke, Oliver Dreesen
Aging Cell. 2024 May; 23(5): e14105. Published online 2024 Mar 19. doi: 10.1111/acel.14105
PMCID:
PMC11113360
AbstractArticlePDF–32M
12.
Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease
Nicholas Borja, Stephanie Bivona, Lé Shon Peart, Brittany Johnson, Joanna Gonzalez, Deborah Barbouth, Henry Moore, Shengru Guo, Undiagnosed Disease Network , Guney Bademci, Mustafa Tekin
Mol Genet Genomic Med. 2022 Apr; 10(4): e1892. Published online 2022 Mar 5. doi: 10.1002/mgg3.1892
PMCID:
PMC9000935
AbstractArticlePDF–864K
13.
Development and optimization of a high content analysis platform to identify suppressors of lamin B1 overexpression as a therapeutic strategy for Autosomal Dominant Leukodystrophy
Bruce Nmezi, Laura L. Vollmer, Tong Ying Shun, Albert Gough, Harshvardhan Rolyan, Fang Liu, Yumeng Jia, Quasar S. Padiath, Andreas Vogt
SLAS Discov. Author manuscript; available in PMC 2021 Sep 1.
Published in final edited form as: SLAS Discov. 2020 Sep; 25(8): 939–949. Published online 2020 Apr 30. doi: 10.1177/2472555220915821
PMCID:
PMC7755098
AbstractArticlePDF–865K
14.
Dynamic Lamin B1-Gene Association During Oligodendrocyte Progenitor Differentiation
Camila Yattah, Marylens Hernandez, Dennis Huang, HyeJin Park, Will Liao, Patrizia Casaccia
Neurochem Res. Author manuscript; available in PMC 2020 Mar 8.
Published in final edited form as: Neurochem Res. 2020 Mar; 45(3): 606–619. Published online 2020 Feb 4. doi: 10.1007/s11064-019-02941-y
PMCID:
PMC7060805
AbstractArticlePDF–1.4M
15.
Calcium-insensitive splice variants of mammalian E1 subunit of 2-oxoglutarate dehydrogenase complex with tissue-specific patterns of expression
Richard M. Denton, Timothy J. Pullen, Craig T. Armstrong, Kate J. Heesom, Guy A. Rutter
Biochem J. Author manuscript; available in PMC 2018 Aug 20.
Published in final edited form as: Biochem J. 2016 May 1; 473(9): 1165–1178. Published online 2016 Mar 2. doi: 10.1042/BCJ20160135
PMCID:
PMC6101200
AbstractArticlePDF–3.1M
16.
Mice overexpressing lamin B1 in oligodendrocytes recapitulate the age-dependent motor signs, but not the early autonomic cardiovascular dysfunction of autosomal-dominant leukodystrophy (ADLD)
Viviana Lo Martire, Sara Alvente, Stefano Bastianini, Chiara Berteotti, Cristiano Bombardi, Giovanna Calandra-Buonaura, Sabina Capellari, Gary Cohen, Pietro Cortelli, Laura Gasparini, Quasar Padiath, Alice Valli, Giovanna Zoccoli, Alessandro Silvani
Exp Neurol. Author manuscript; available in PMC 2019 Mar 1.
Published in final edited form as: Exp Neurol. 2018 Mar; 301(Pt A): 1–12. Published online 2017 Dec 17. doi: 10.1016/j.expneurol.2017.12.006
PMCID:
PMC5809293
AbstractArticlePDF–744K
17.
Lamin B1 mediated demyelination: Linking Lamins, Lipids and Leukodystrophies
Quasar S. Padiath
Nucleus. 2016; 7(6): 547–553. Published online 2016 Nov 17. doi: 10.1080/19491034.2016.1260799
PMCID:
PMC5214339
AbstractArticlePDF–476K
18.
LMNB1‐related autosomal‐dominant leukodystrophy: Clinical and radiological course
Johannes Finnsson, Jimmy Sundblom, Niklas Dahl, Atle Melberg, Raili Raininko
Ann Neurol. 2015 Sep; 78(3): 412–425. Published online 2015 Jul 27. doi: 10.1002/ana.24452
PMCID:
PMC5054845
AbstractArticlePDF–1008K
19.
Lamin B1 protein is required for dendrite development in primary mouse cortical neurons
Caterina Giacomini, Sameehan Mahajani, Roberta Ruffilli, Roberto Marotta, Laura Gasparini
Mol Biol Cell. 2016 Jan 1; 27(1): 35–47. doi: 10.1091/mbc.E15-05-0307
PMCID:
PMC4694760
AbstractArticlePDF–7.2M
20.
Defects of Lipid Synthesis Are Linked to the Age-Dependent Demyelination Caused by Lamin B1 Overexpression
Harshvardhan Rolyan, Yulia Y. Tyurina, Marylens Hernandez, Andrew A. Amoscato, Louis J. Sparvero, Bruce C. Nmezi, Yue Lu, Marcos R. H. Estécio, Kevin Lin, Junda Chen, Rong-Rong He, Pin Gong, Lora H. Rigatti, Jeffrey Dupree, Hülya Bayır, Valerian E. Kagan, Patrizia Casaccia, Quasar S. Padiath
J Neurosci. 2015 Aug 26; 35(34): 12002–12017. doi: 10.1523/JNEUROSCI.1668-15.2015
Correction in:
J Neurosci. 2016 Jul 13; 36(28): 7557.
PMCID:
PMC4549407
AbstractArticlePDF–5.6M

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