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Items: 1 to 20 of 454

1.
Congenital fiber-type disproportion presenting with type II respiratory failure after delivery: A case report
Hong-Mei Yang, Jian-Xing Guo, Yi-Min Yang
World J Clin Cases. 2021 Mar 6; 9(7): 1748–1754. Published online 2021 Mar 6. doi: 10.12998/wjcc.v9.i7.1748
PMCID:
PMC7942053
AbstractArticlePDF–4.4M
2.
MYL2-associated congenital fiber-type disproportion and cardiomyopathy with variants in additional neuromuscular disease genes; the dilemma of panel testing
Minttu Marttila, Wathone Win, Fouad Al-Ghamdi, Hoda Z. Abdel-Hamid, David Lacomis, Alan H. Beggs
Cold Spring Harb Mol Case Stud. 2019 Aug; 5(4): a004184. doi: 10.1101/mcs.a004184
PMCID:
PMC6672024
AbstractArticlePDF–3.4M
3.
Comparison of Clinical Characteristics Between Congenital Fiber Type Disproportion Myopathy and Congenital Myopathy with Type 1 Fiber Predominance
Sang-Jun Na, Woo-Kyung Kim, Tai-Seung Kim, Seong-Woong Kang, Eun-Young Lee, Young-Chul Choi
Yonsei Med J. 2006 Aug 31; 47(4): 513–518. Published online 2006 Aug 31. doi: 10.3349/ymj.2006.47.4.513
PMCID:
PMC2687732
AbstractArticlePDF–1.0M
4.
Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion
Michael W. Lawlor, Elizabeth T. DeChene, Emily Roumm, Amelia S. Geggel, Behzad Moghadaszadeh, Alan H Beggs
Hum Mutat. Author manuscript; available in PMC 2011 Feb 1.
Published in final edited form as: Hum Mutat. 2010 Feb; 31(2): 176–183. doi: 10.1002/humu.21157
PMCID:
PMC2815199
AbstractArticlePDF–212K
5.
A case of congenital fiber‐type disproportion syndrome presenting dilated cardiomyopathy with ACTA1 mutation
Ayumi Matsumoto, Hidetoshi Tsuda, Sadahiro Furui, Masako Kawada‐Nagashima, Tatsuya Anzai, Mitsuru Seki, Kazuhisa Watanabe, Kazuhiro Muramatsu, Hitoshi Osaka, Sadahiko Iwamoto, Ichizo Nishino, Takanori Yamagata
Mol Genet Genomic Med. 2022 Sep; 10(9): e2008. Published online 2022 Jun 27. doi: 10.1002/mgg3.2008
PMCID:
PMC9482392
AbstractArticlePDF–5.8M
6.
A Case Report of Congenital Fiber Type Disproportion with an Increased Level of Anti-ACh Receptor Antibodies
Shigemi Kimura, Shiro Ozasa, Keiko Nomura, Hirofumi Kosuge, Kowasi Yoshioka
Case Rep Pediatr. 2013; 2013: 607678. Published online 2013 May 16. doi: 10.1155/2013/607678
PMCID:
PMC3670572
AbstractArticlePDF–1.4M
7.
Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion
Nasim Vasli, Elizabeth Harris, Jason Karamchandani, Eric Bareke, Jacek Majewski, Norma B. Romero, Tanya Stojkovic, Rita Barresi, Hichem Tasfaout, Richard Charlton, Edoardo Malfatti, Johann Bohm, Chiara Marini-Bettolo, Karine Choquet, Marie-Josée Dicaire, Yi-Hong Shao, Ana Topf, Erin O’Ferrall, Bruno Eymard, Volker Straub, Gonzalo Blanco, Hanns Lochmüller, Bernard Brais, Jocelyn Laporte, Martine Tétreault
Brain. 2017 Jan; 140(1): 37–48. Published online 2016 Nov 5. doi: 10.1093/brain/aww257
PMCID:
PMC5226058
AbstractArticlePDF–756K
8.
Yeast Nem1-Spo7 Protein Phosphatase Activity on Pah1 Phosphatidate Phosphatase Is Specific for the Pho85-Pho80 Protein Kinase Phosphorylation Sites
Wen-Min Su, Gil-Soo Han, George M. Carman
J Biol Chem. 2014 Dec 12; 289(50): 34699–34708. Published online 2014 Oct 30. doi: 10.1074/jbc.M114.614883
PMCID:
PMC4263874
AbstractArticlePDF–628K
9.
Seipin and Nem1 establish discrete ER subdomains to initiate yeast lipid droplet biogenesis
Vineet Choudhary, Ola El Atab, Giulia Mizzon, William A. Prinz, Roger Schneiter
J Cell Biol. 2020 Jul 6; 219(7): e201910177. Published online 2020 Apr 29. doi: 10.1083/jcb.201910177
PMCID:
PMC7337503
AbstractArticlePDF–7.9M
10.
Congenital fibre type disproportion myopathy. A histological diagnosis with an uncertain clinical outlook.
N P Cavanagh, B D Lake, P McMeniman
Arch Dis Child. 1979 Oct; 54(10): 735–743. doi: 10.1136/adc.54.10.735
PMCID:
PMC1545647
SummaryPage BrowsePDF–2.6M
11.
Phosphatidic Acid Mediates the Nem1-Spo7/Pah1 Phosphatase Cascade in Yeast Lipid Synthesis
Joanna M. Kwiatek, Bryan Gutierrez, Enver Cagri Izgu, Gil-Soo Han, George M. Carman
J Lipid Res. 2022 Nov; 63(11): 100282. Published online 2022 Sep 20. doi: 10.1016/j.jlr.2022.100282
PMCID:
PMC9587005
AbstractArticlePDF–1.8M
12.
Protein kinase A phosphorylates the Nem1–Spo7 protein phosphatase complex that regulates the phosphorylation state of the phosphatidate phosphatase Pah1 in yeast
Wen-Min Su, Gil-Soo Han, Prabuddha Dey, George M. Carman
J Biol Chem. 2018 Oct 12; 293(41): 15801–15814. Published online 2018 Sep 10. doi: 10.1074/jbc.RA118.005348
PMCID:
PMC6187626
AbstractArticlePDF–1.2M
13.
The Saccharomyces cerevisiae Spo7 basic tail is required for Nem1–Spo7/Pah1 phosphatase cascade function in lipid synthesis
Ruta Jog, Gil-Soo Han, George M. Carman
J Biol Chem. 2024 Jan; 300(1): 105587. Published online 2023 Dec 21. doi: 10.1016/j.jbc.2023.105587
PMCID:
PMC10820825
AbstractArticlePDF–2.6M
14.
Peripartum Management of Congenital Fiber Type Disproportion Myopathy With Severe Restrictive Lung Disease
Shibinath Velutha Mannil, Shamantha Reddy, Erik B Romanelli
Cureus. 2022 Nov; 14(11): e32019. Published online 2022 Nov 29. doi: 10.7759/cureus.32019
PMCID:
PMC9800029
AbstractArticlePDF–210K
15.
The Spo7 sequence LLI is required for Nem1-Spo7/Pah1 phosphatase cascade function in yeast lipid metabolism
Mona Mirheydari, Prabuddha Dey, Geordan J. Stukey, Yeonhee Park, Gil-Soo Han, George M. Carman
J Biol Chem. 2020 Aug 14; 295(33): 11473–11485. Published online 2020 Jun 11. doi: 10.1074/jbc.RA120.014129
PMCID:
PMC7450139
AbstractArticlePDF–2.0M
16.
Phosphorylation-mediated regulation of the Nem1-Spo7/Pah1 phosphatase cascade in yeast lipid synthesis
Shoily Khondker, Gil-Soo Han, George M. Carman
Adv Biol Regul. Author manuscript; available in PMC 2023 May 1.
Published in final edited form as: Adv Biol Regul. 2022 May; 84: 100889. Published online 2022 Feb 23. doi: 10.1016/j.jbior.2022.100889
PMCID:
PMC9149063
AbstractArticlePDF–1.1M
17.
TORC1 Regulates Pah1 Phosphatidate Phosphatase Activity via the Nem1/Spo7 Protein Phosphatase Complex
Emmanuelle Dubots, Stéphanie Cottier, Marie-Pierre Péli-Gulli, Malika Jaquenoud, Séverine Bontron, Roger Schneiter, Claudio De Virgilio
PLoS One. 2014; 9(8): e104194. Published online 2014 Aug 12. doi: 10.1371/journal.pone.0104194
PMCID:
PMC4130541
AbstractArticlePDF–1.1M
18.
Protein kinase C mediates the phosphorylation of the Nem1–Spo7 protein phosphatase complex in yeast
Prabuddha Dey, Wen-Min Su, Mona Mirheydari, Gil-Soo Han, George M. Carman
J Biol Chem. 2019 Nov 1; 294(44): 15997–16009. Published online 2019 Sep 9. doi: 10.1074/jbc.RA119.010592
PMCID:
PMC6827291
AbstractArticlePDF–1.0M
19.
A syndrome of hypotonia, psychomotor retardation, seizures, delayed and dysharmonic skeletal maturation, and congenital fibre type disproportion.
Q H Qazi, D Markouizos, C Rao, T Sheikh, E Beller, R Kula
J Med Genet. 1994 May; 31(5): 405–409. doi: 10.1136/jmg.31.5.405
PMCID:
PMC1049875
SummaryPage BrowsePDF–1.3M
20.
Conserved regions of the regulatory subunit Spo7 are required for Nem1–Spo7/Pah1 phosphatase cascade function in yeast lipid synthesis
Ruta Jog, Gil-Soo Han, George M. Carman
J Biol Chem. 2023 May; 299(5): 104683. Published online 2023 Apr 6. doi: 10.1016/j.jbc.2023.104683
PMCID:
PMC10193233
AbstractArticlePDF–2.3M

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