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Items: 1 to 20 of 162

1.
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
2.
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
AbstractArticlePDF–1.0M
3.
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
AbstractArticlePDF–698K
4.
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
AbstractArticlePDF–3.3M
5.
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
AbstractArticlePDF–709K
6.
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
AbstractArticlePDF–2.8M
7.
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
AbstractArticlePDF–2.2M
8.
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
AbstractArticlePDF–3.3M
9.
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
AbstractArticlePDF–206K
10.
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
AbstractArticlePDF–743K
11.
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
AbstractArticlePDF–4.4M
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
AbstractArticlePDF–351K
13.
Acid Sphingomyelinase Deficiency: Sharing Experience of Disease Monitoring and Severity in France
Wladimir Mauhin, Raphaël Borie, Florence Dalbies, Claire Douillard, Nathalie Guffon, Christian Lavigne, Olivier Lidove, Anaïs Brassier
J Clin Med. 2022 Feb; 11(4): 920. Published online 2022 Feb 10. doi: 10.3390/jcm11040920
PMCID:
PMC8877564
AbstractArticlePDF–819K
14.
One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency
George A. Diaz, Simon A. Jones, Maurizio Scarpa, Karl Eugen Mengel, Roberto Giugliani, Nathalie Guffon, Isabela Batsu, Patricia A. Fraser, Jing Li, Qi Zhang, Catherine Ortemann-Renon
Genet Med. 2021; 23(8): 1543–1550. Published online 2021 Apr 19. doi: 10.1038/s41436-021-01156-3
Correction in:
Genet Med. 2022 Oct; 24(10): 2209.
PMCID:
PMC8354848
AbstractArticlePDF–617K
15.
Molecular analysis of the acid sphingomyelinase deficiency in a family with an intermediate form of Niemann-Pick disease.
K Ferlinz, R Hurwitz, M Weiler, K Suzuki, K Sandhoff, M T Vanier
Am J Hum Genet. 1995 Jun; 56(6): 1343–1349.
PMCID:
PMC1801117
SummaryPage BrowsePDF–1.2M
16.
Focal hepatic lesions in acid sphingomyelinase deficiency: Differential diagnosis between foamy macrophages aggregates and malignancy
Annalisa Sechi, Alessandro Vit, Claudio Avellini, Andrea Dardis, Andrea Pellegrin, Maurizio Scarpa, Bruno Bembi
Mol Genet Metab Rep. 2021 Dec; 29: 100808. Published online 2021 Oct 5. doi: 10.1016/j.ymgmr.2021.100808
PMCID:
PMC8502771
AbstractArticlePDF–3.9M
17.
Impact and burden of acid sphingomyelinase deficiency from a patient and caregiver perspective
Robin Pokrzywinski, Asha Hareendran, Luba Nalysnyk, Sandy Cowie, Joslyn Crowe, Justin Hopkin, Dhaivat Joshi, Ruth Pulikottil-Jacob
Sci Rep. 2021; 11: 20972. Published online 2021 Oct 25. doi: 10.1038/s41598-021-99921-6
PMCID:
PMC8546120
AbstractArticlePDF–1.0M
18.
Renal involvement in a patient with the chronic visceral subtype of acid sphingomyelinase deficiency resembles Fabry disease
Eline C. B. Eskes, Martijn J. C. van der Lienden, Joris J. T. H. Roelofs, Liffert Vogt, Johannes M. F. G. Aerts, Jan Aten, Carla E. M. Hollak
JIMD Rep. 2021 Nov; 62(1): 15–21. Published online 2021 Jul 26. doi: 10.1002/jmd2.12242
PMCID:
PMC8574181
AbstractArticlePDF–2.1M
19.
Prevalence of Cancer in Acid Sphingomyelinase Deficiency
Wladimir Mauhin, Thierry Levade, Marie T. Vanier, Roseline Froissart, Olivier Lidove
J Clin Med. 2021 Nov; 10(21): 5029. Published online 2021 Oct 28. doi: 10.3390/jcm10215029
PMCID:
PMC8584997
AbstractArticlePDF–566K
20.
Acid Sphingomyelinase Deficiency: A Clinical and Immunological Perspective
Carolina Pinto, Diana Sousa, Vladimir Ghilas, Andrea Dardis, Maurizio Scarpa, Maria Fatima Macedo
Int J Mol Sci. 2021 Dec; 22(23): 12870. Published online 2021 Nov 28. doi: 10.3390/ijms222312870
PMCID:
PMC8657623
AbstractArticlePDF–1018K

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