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Items: 1 to 20 of 103

1.
CLN8 Mutations Presenting with a Phenotypic Continuum of Neuronal Ceroid Lipofuscinosis—Literature Review and Case Report
Magdalena Badura-Stronka, Anna Winczewska-Wiktor, Anna Pietrzak, Adam Sebastian Hirschfeld, Tomasz Zemojtel, Katarzyna Wołyńska, Katarzyna Bednarek-Rajewska, Monika Seget-Dubaniewicz, Agnieszka Matheisel, Anna Latos-Bielenska, Barbara Steinborn
Genes (Basel) 2021 Jul; 12(7): 956. Published online 2021 Jun 23. doi: 10.3390/genes12070956
PMCID:
PMC8307369
AbstractArticlePDF–2.7M
2.
CLN8 is an ER cargo receptor that regulates lysosome biogenesis
Alberto di Ronza, Lakshya Bajaj, Jaiprakash Sharma, Deepthi Sanagasetti, Parisa Lotfi, Carolyn Joy Adamski, John Collette, Michela Palmieri, Abdallah Amawi, Lauren Popp, Kevin Tommy Chang, Maria Chiara Meschini, Hon-Chiu Eastwood Leung, Laura Segatori, Alessandro Simonati, Richard Norman Sifers, Filippo Maria Santorelli, Marco Sardiello
Nat Cell Biol. Author manuscript; available in PMC 2019 May 5.
Published in final edited form as: Nat Cell Biol. 2018 Dec; 20(12): 1370–1377. Published online 2018 Nov 5. doi: 10.1038/s41556-018-0228-7
PMCID:
PMC6277210
AbstractArticlePDF–2.7M
3.
CLN8 Gene Compound Heterozygous Variants: A New Case and Protein Bioinformatics Analyses
Rajech Sharkia, Abdelnaser Zalan, Hazar Zahalka, Amit Kessel, Ayman Asaly, Wasif Al-Shareef, Muhammad Mahajnah
Genes (Basel) 2022 Aug; 13(8): 1393. Published online 2022 Aug 5. doi: 10.3390/genes13081393
PMCID:
PMC9407845
AbstractArticlePDF–2.9M
4.
Identification of two novel null variants in CLN8 by targeted next-generation sequencing: first report of a Chinese patient with neuronal ceroid lipofuscinosis due to CLN8 variants
Zhijie Gao, Hua Xie, Qian Jiang, Nan Wu, Xiaoli Chen, Qian Chen
BMC Med Genet. 2018; 19: 21. Published online 2018 Feb 8. doi: 10.1186/s12881-018-0535-7
PMCID:
PMC5806251
AbstractArticlePDF–1.7M
5.
Acyl Chain Specificity of Ceramide Synthases Is Determined within a Region of 150 Residues in the Tram-Lag-CLN8 (TLC) Domain
Rotem Tidhar, Shifra Ben-Dor, Elaine Wang, Samuel Kelly, Alfred H. Merrill, Jr., Anthony H. Futerman
J Biol Chem. 2012 Jan 27; 287(5): 3197–3206. Published online 2011 Dec 5. doi: 10.1074/jbc.M111.280271
PMCID:
PMC3270974
AbstractArticlePDF–2.7M
6.
A novel candidate gene CLN8 regulates fat deposition in avian
Xiaoqin Li, Fan Zhang, Yunxiao Sun, Dandan Sun, Fangxi Yang, Yongtong Liu, Zhuocheng Hou
J Anim Sci Biotechnol. 2023; 14: 70. Published online 2023 May 1. doi: 10.1186/s40104-023-00864-x
PMCID:
PMC10150489
AbstractArticlePDF–4.8M
7.
A CLN6-CLN8 complex recruits lysosomal enzymes at the ER for Golgi transfer
Lakshya Bajaj, Jaiprakash Sharma, Alberto di Ronza, Pengcheng Zhang, Aiden Eblimit, Rituraj Pal, Dany Roman, John R. Collette, Clarissa Booth, Kevin T. Chang, Richard N. Sifers, Sung Y. Jung, Jill M. Weimer, Rui Chen, Randy W. Schekman, Marco Sardiello
J Clin Invest. 2020 Aug 3; 130(8): 4118–4132. Published online 2020 Jun 29. doi: 10.1172/JCI130955
PMCID:
PMC7410054
AbstractArticlePDF–8.5M
8.
Genome-wide Association Study of N370S Homozygous Gaucher Disease Reveals the Candidacy of CLN8 gene as a Genetic Modifier Contributing to Extreme Phenotypic Variation
Clarence K. Zhang, Philip B. Stein, Jun Liu, Gregory M. Pastores, Zuoheng Wang, Ruhua Yang, Judy H. Cho, Peter K. Gregersen, Johannes M. F. G. Aerts, Hongyu Zhao, Pramod K. Mistry
Am J Hematol. Author manuscript; available in PMC 2013 Jun 17.
Published in final edited form as: Am J Hematol. 2012 Apr; 87(4): 377–383. Published online 2012 Mar 3. doi: 10.1002/ajh.23118
PMCID:
PMC3684025
AbstractArticlePDF–2.0M
9.
CLN8 disease caused by large genomic deletions
Clare Beesley, Rita J. Guerreiro, Jose T. Bras, Ruth E. Williams, Ana Lia Taratuto, Christin Eltze, Sara E. Mole
Mol Genet Genomic Med. 2017 Jan; 5(1): 85–91. Published online 2016 Nov 23. doi: 10.1002/mgg3.263
PMCID:
PMC5241206
AbstractArticlePDF–2.9M
10.
Two compound heterozygous variants in the CLN8 gene are responsible for neuronal cereidolipofuscinoses disorder in a child: a case report
Federico Baltar, Camila Simoes, Francisco Garagorry, Martín Graña, Soledad Rodríguez, María Haydée Aunchayna, Alejandra Tapié, Alfredo Cerisola, Gabriel González, Hugo Naya, Lucía Spangenberg, Víctor Raggio
Front Pediatr. 2024; 12: 1379254. Published online 2024 May 1. doi: 10.3389/fped.2024.1379254
PMCID:
PMC11094295
AbstractArticlePDF–1.7M
11.
Neuronal ceroid lipofuscinosis in a German Shorthaired Pointer associated with a previously reported CLN8 nonsense variant
Juyuan Guo, Gary S. Johnson, James Cook, Olivia K. Harris, Tendai Mhlanga-Mutangadura, Robert D. Schnabel, Cheryl A. Jensen, Martin L. Katz
Mol Genet Metab Rep. 2019 Dec; 21: 100521. Published online 2019 Oct 21. doi: 10.1016/j.ymgmr.2019.100521
PMCID:
PMC6819867
AbstractArticlePDF–3.1M
12.
Resequencing and Association Analysis of CLN8 with Autism Spectrum Disorder in a Japanese Population
Emiko Inoue, Yuichiro Watanabe, Jingrui Xing, Itaru Kushima, Jun Egawa, Shujiro Okuda, Satoshi Hoya, Takashi Okada, Yota Uno, Kanako Ishizuka, Atsunori Sugimoto, Hirofumi Igeta, Ayako Nunokawa, Toshiro Sugiyama, Norio Ozaki, Toshiyuki Someya
PLoS One. 2015; 10(12): e0144624. Published online 2015 Dec 14. doi: 10.1371/journal.pone.0144624
PMCID:
PMC4682829
AbstractArticlePDF–233K
13.
Isolated chromosome 8p23.2-pter deletion: Novel evidence for developmental delay, intellectual disability, microcephaly and neurobehavioral disorders
Shanshan Shi, Shaobin Lin, Baojiang Chen, Yi Zhou
Mol Med Rep. 2017 Nov; 16(5): 6837–6845. Published online 2017 Sep 7. doi: 10.3892/mmr.2017.7438
PMCID:
PMC5865842
AbstractArticlePDF–1.0M
14.
Sensory Rewiring in an Echolocator: Genome-Wide Modification of Retinogenic and Auditory Genes in the Bat Myotis davidii
Nicholas J. Hudson, Michelle L. Baker, Nathan S. Hart, James W. Wynne, Quan Gu, Zhiyong Huang, Guojie Zhang, Aaron B. Ingham, Linfa Wang, Antonio Reverter
G3 (Bethesda) 2014 Oct; 4(10): 1825–1835. Published online 2014 Aug 4. doi: 10.1534/g3.114.011262
PMCID:
PMC4199690
AbstractArticlePDF–1.7M
15.
Exome Sequencing Is an Efficient Tool for Variant Late-Infantile Neuronal Ceroid Lipofuscinosis Molecular Diagnosis
Liliana Catherine Patiño, Rajani Battu, Oscar Ortega-Recalde, Jeyabalan Nallathambi, Venkata Ramana Anandula, Umashankar Renukaradhya, Paul Laissue
PLoS One. 2014; 9(10): e109576. Published online 2014 Oct 15. doi: 10.1371/journal.pone.0109576
PMCID:
PMC4198115
AbstractArticlePDF–790K
16.
8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature
Ilaria Catusi, Maria Garzo, Anna Paola Capra, Silvana Briuglia, Chiara Baldo, Maria Paola Canevini, Rachele Cantone, Flaviana Elia, Francesca Forzano, Ornella Galesi, Enrico Grosso, Michela Malacarne, Angela Peron, Corrado Romano, Monica Saccani, Lidia Larizza, Maria Paola Recalcati
Genes (Basel) 2021 May; 12(5): 652. Published online 2021 Apr 27. doi: 10.3390/genes12050652
PMCID:
PMC8146486
AbstractArticlePDF–3.1M
17.
Whole-Genome and Transposed Duplication Contributes to the Expansion and Diversification of TLC Genes in Maize
Weina Si, Tianlu Hang, Mingyue Guo, Zhen Chen, Qizhi Liang, Longjiang Gu, Ting Ding
Int J Mol Sci. 2019 Nov; 20(21): 5484. Published online 2019 Nov 4. doi: 10.3390/ijms20215484
PMCID:
PMC6862079
AbstractArticlePDF–4.1M
18.
The Genetic Spectrum of Human Neuronal Ceroid‐lipofuscinoses
Sara E. Mole
Brain Pathol. 2004 Jan; 14(1): 70–76. Published online 2006 Apr 5. doi: 10.1111/j.1750-3639.2004.tb00500.x
PMCID:
PMC8095883
SummaryPDF–124K
19.
Current State of Clinical and Morphological Features in Human NCL
Hans H Goebel, Krystyna E. Wisniewski
Brain Pathol. 2004 Jan; 14(1): 61–69. Published online 2006 Apr 5. doi: 10.1111/j.1750-3639.2004.tb00499.x
PMCID:
PMC8095868
SummaryPDF–473K
20.
Autosomal Dominant Adult Neuronal Ceroid Lipofuscinosis: a Novel Form of NCL with Granular Osmiophilic Deposits without Palmitoyl Protein Thioesterase 1 Deficiency
Peter C. G. Nijssen, Chantal Ceuterick, Otto P. van Diggelen, Milan Elleder, Jean‐Jacques Martin, Johannes L. J. M. Teepen, Jaana Tyynelä, Raymund A. C. Roos
Brain Pathol. 2003 Oct; 13(4): 574–581. Published online 2006 Apr 5. doi: 10.1111/j.1750-3639.2003.tb00486.x
PMCID:
PMC8095852
SummaryPDF–916K

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