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Items: 1 to 20 of 146

1.
Massive Accumulation of Sphingomyelin Affects the Lysosomal and Mitochondria Compartments and Promotes Apoptosis in Niemann-Pick Disease Type A
Emma Veronica Carsana, Giulia Lunghi, Simona Prioni, Laura Mauri, Nicoletta Loberto, Alessandro Prinetti, Fabio Andrea Zucca, Rosaria Bassi, Sandro Sonnino, Elena Chiricozzi, Stefano Duga, Letizia Straniero, Rosanna Asselta, Giulia Soldà, Maura Samarani, Massimo Aureli
J Mol Neurosci. 2022; 72(7): 1482–1499. Published online 2022 Jun 21. doi: 10.1007/s12031-022-02036-4
PMCID:
PMC9293875
ArticlePDF–4.4M
2.
Niemann-Pick Disease Type A: A Rare Disease With a Fatal Outcome
Khadija Qureshi, Zahraa Ghasan Abdulmajeed, Shoaib Saleem, Javera Tariq, Mashhood Iqbal
Cureus. 2022 Feb; 14(2): e21955. Published online 2022 Feb 6. doi: 10.7759/cureus.21955
PMCID:
PMC8903814
ArticlePDF–743K
3.
Autopsy pathology of infantile neurovisceral ASMD (Niemann-Pick Disease type A): Clinicopathologic correlations of a case report
Beth L. Thurberg
Mol Genet Metab Rep. 2020 Sep; 24: 100626. Published online 2020 Jul 16. doi: 10.1016/j.ymgmr.2020.100626
PMCID:
PMC7371898
ArticlePDF–2.2M
4.
Adeno-associated viral vector serotype 9-based gene therapy for Niemann-Pick disease type A
Lluis Samaranch, Azucena Pérez-Cañamás, Beatriz Soto-Huelin, Vivek Sudhakar, Jerónimo Jurado-Arjona, Piotr Hadaczek, Jesús Ávila, John R. Bringas, Josefina Casas, Haifeng Chen, Xingxuan He, Edward H. Schuchman, Seng H. Cheng, John Forsayeth, Krystof S. Bankiewicz, María Dolores Ledesma
Sci Transl Med. Author manuscript; available in PMC 2020 Aug 21.
Published in final edited form as: Sci Transl Med. 2019 Aug 21; 11(506): eaat3738. doi: 10.1126/scitranslmed.aat3738
PMCID:
PMC7285630
ArticlePDF–2.8M
5.
An induced pluripotent stem cell line (TRNDi009-C) from a Niemann-Pick disease type A patient carrying a heterozygous p.L302P (c.905 T > C) mutation in the SMPD1 gene
Amanda Baskfield, Rong Li, Jeanette Beers, Jizhong Zou, Chengyu Liu, Wei Zheng
Stem Cell Res. Author manuscript; available in PMC 2019 Aug 8.
Published in final edited form as: Stem Cell Res. 2019 Jul; 38: 101461. Published online 2019 May 15. doi: 10.1016/j.scr.2019.101461
PMCID:
PMC6686851
ArticlePDF–698K
6.
Deep sequencing of SMPD1 gene revealed a heterozygous frameshift mutation (p.Ser192Alafs) in a Palestinian infant with Niemann–Pick disease type A: a case report
Abedelmajeed Nasereddin, Suheir Ereqat
J Med Case Rep. 2018; 12: 272. Published online 2018 Sep 18. doi: 10.1186/s13256-018-1805-x
PMCID:
PMC6142321
ArticlePDF–1.0M
7.
Induced Pluripotent Stem Cells for Disease Modeling and Evaluation of Therapeutics for Niemann-Pick Disease Type A
Yan Long, Miao Xu, Rong Li, Sheng Dai, Jeanette Beers, Guokai Chen, Ferri Soheilian, Ulrich Baxa, Mengqiao Wang, Juan J. Marugan, Silvia Muro, Zhiyuan Li, Roscoe Brady, Wei Zheng
Stem Cells Transl Med. 2016 Dec; 5(12): 1644–1655. Published online 2016 Aug 2. doi: 10.5966/sctm.2015-0373
Correction in:
Stem Cells Transl Med. 2021 Sep; 10(9): 1360.
PMCID:
PMC5189647
ArticlePDF–3.3M
8.
Case Report: Genetic analysis and anesthetic management of a child with Niemann-Pick disease Type A
Priti G. Dalal, Melissa Coleman, Meagan Horst, Dorothy Rocourt, Roger L. Ladda, Piotr K. Janicki
Version 1. F1000Res. 2015; 4: 1423. Published online 2015 Dec 10. doi: 10.12688/f1000research.7470.1
PMCID:
PMC4743149
ArticlePDF–709K
9.
High sphingomyelin levels induce lysosomal damage and autophagy dysfunction in Niemann Pick disease type A
E Gabandé-Rodríguez, P Boya, V Labrador, C G Dotti, M D Ledesma
Cell Death Differ. 2014 Jun; 21(6): 864–875. Published online 2014 Jan 31. doi: 10.1038/cdd.2014.4
PMCID:
PMC4013520
ArticlePDF–3.3M
10.
New Single Nucleotide Deletion In the SMPD1 Gene Causes Niemann Pick Disease Type A in a Child from Southwest Iran: A Case Report
Hamid Galehdari, Raheleh Tangestani, Sepideh Ghasemian
Iran J Pediatr. 2013 Apr; 23(2): 233–236.
PMCID:
PMC3663321
ArticlePDF–206K
11.
Sphingosylphosphocholine, a signaling molecule which accumulates in Niemann-Pick disease type A, stimulates DNA-binding activity of the transcription activator protein AP-1.
A Berger, D Rosenthal, S Spiegel
Proc Natl Acad Sci U S A. 1995 Jun 20; 92(13): 5885–5889. doi: 10.1073/pnas.92.13.5885
PMCID:
PMC41606
SummaryPage BrowsePDF–1.7M
12.
Novel Mutation in Chromosome 11p15.4 Causing Niemann-Pick Disease Type A in a Saudi Child
Adel M Al Shahrani, Walaa Asiri, Saad Ali M Alqarni, Lujaine M Al Murayeh
Cureus. 2024 Mar; 16(3): e55883. Published online 2024 Mar 10. doi: 10.7759/cureus.55883
PMCID:
PMC11002711
ArticlePDF–351K
13.
Alkaline sphingomyelinase deficiency impairs intestinal mucosal barrier integrity and reduces antioxidant capacity in dextran sulfate sodium-induced colitis
Ye Tian, Xin Li, Xu Wang, Si-Ting Pei, Hong-Xin Pan, Yu-Qi Cheng, Yi-Chen Li, Wen-Ting Cao, Jin-Dong Ding Petersen, Ping Zhang
World J Gastroenterol. 2024 Mar 14; 30(10): 1405–1419. Published online 2024 Mar 14. doi: 10.3748/wjg.v30.i10.1405
PMCID:
PMC11000083
ArticlePDF–6.1M
14.
Gaucher Disease or Acid Sphingomyelinase Deficiency? The Importance of Differential Diagnosis
Miriam Giacomarra, Paolo Colomba, Daniele Francofonte, Marcomaria Zora, Giovanni Caocci, Daniela Diomede, Gaetano Giuffrida, Laura Fiori, Chiara Montanari, Annamaria Sapuppo, Anna Rita Scortechini, Nicola Vitturi, Giovanni Duro, Carmela Zizzo
J Clin Med. 2024 Mar; 13(5): 1487. Published online 2024 Mar 5. doi: 10.3390/jcm13051487
PMCID:
PMC10932152
ArticlePDF–2.2M
15.
Diagnostic odyssey for patients with acid sphingomyelinase deficiency (ASMD): Exploring the potential indicators of diagnosis using quantitative and qualitative data
Andrew Doerr, Maliha Farooq, Chad Faulkner, Rebecca Gould, Krista Perry, Ruth Pulikottil-Jacob, Pamela Rajasekhar
Mol Genet Metab Rep. 2024 Mar; 38: 101052. Published online 2024 Jan 17. doi: 10.1016/j.ymgmr.2024.101052
PMCID:
PMC10926222
ArticlePDF–3.3M
16.
Real-life impacts of olipudase alfa: The experience of patients and families taking an enzyme replacement therapy for acid sphingomyelinase deficiency
Eva M. Raebel, Samantha Wiseman, Conan Donnelly, Toni Mathieson, Jackson Pountney, Joslyn Crowe, Justin Hopkin
Orphanet J Rare Dis. 2024; 19: 36. Published online 2024 Feb 1. doi: 10.1186/s13023-024-03020-4
PMCID:
PMC10835881
ArticlePDF–1.8M
17.
Survival of patients with chronic acid sphingomyelinase deficiency (ASMD) in the United States: A retrospective chart review study
Ruth Pulikottil-Jacob, Sumudu Dehipawala, Brittany Smith, Amod Athavale, Gaelle Gusto, Aastha Chandak, Artak Khachatryan, Tamar Banon, Marie Fournier, Sophie Guillonneau, Laurence Pollissard, Maria Veronica Munoz-Rojas
Mol Genet Metab Rep. 2024 Mar; 38: 101040. Published online 2023 Dec 24. doi: 10.1016/j.ymgmr.2023.101040
PMCID:
PMC10767269
ArticlePDF–2.9M
18.
The Long-term Lung and Respiratory Outcomes of Acid Sphingomyelinase Deficiency: A 10- and 20-year Follow-up Study
YU-NAN HUANG, SHANG-LUN CHIANG, JING-YANG HUANG, WEN-LI LU, DA-TIAN BAU, PEN-HUA SU, CHUNG-HSING WANG
In Vivo. 2024 Jan-Feb; 38(1): 437–444. Published online 2024 Jan 3. doi: 10.21873/invivo.13457
PMCID:
PMC10756436
ArticlePDF–635K
19.
Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trial
Melissa P. Wasserstein, Robin Lachmann, Carla Hollak, Antonio Barbato, Renata C. Gallagher, Roberto Giugliani, Norberto Bernardo Guelbert, Julia B. Hennermann, Takayuki Ikezoe, Olivier Lidove, Paulina Mabe, Eugen Mengel, Maurizio Scarpa, Ebubekir Senates, Michel Tchan, Jesus Villarrubia, Beth L. Thurberg, Abhimanyu Yarramaneni, Nicole M. Armstrong, Yong Kim, Monica Kumar
Orphanet J Rare Dis. 2023; 18: 378. Published online 2023 Dec 2. doi: 10.1186/s13023-023-02983-0
PMCID:
PMC10693698
ArticlePDF–2.5M
20.
Apolipoprotein-mimetic nanodiscs reduce lipid accumulation and improve liver function in acid sphingomyelinase deficiency
Troy A. Halseth, Adele B. Correia, Mark L. Schultz, Maria V. Fawaz, Esmée Q. Kuiper, Preethi Kumaran, Kristen Hong Dorsey, Edward H. Schuchman, Andrew P. Lieberman, Anna Schwendeman
Nanomedicine. Author manuscript; available in PMC 2023 Sep 27.
Published in final edited form as: Nanomedicine. 2023 Sep; 53: 102705. Published online 2023 Aug 24. doi: 10.1016/j.nano.2023.102705
PMCID:
PMC10530155
ArticlePDF–500K

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