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Article

11 Citations

5,998 Views

9 Pages

Four Novel p.N385K, p.V36A, c.1033–1034insT and c.1417–1418delCT Mutations in the Sphingomyelin Phosphodiesterase 1 (SMPD1) Gene in Patients with Types A and B Niemann-Pick Disease (NPD)

Masoumeh Dehghan Manshadi,
Behnam Kamalidehghan,
Fatemeh Keshavarzi,
Omid Aryani,
Sepideh Dadgar,
Ahoora Arastehkani,
Mahdi Tondar,
Fatemeh Ahmadipour,
Goh Yong Meng and
Massoud Houshmand

Int. J. Mol. Sci.2015, 16(4), 6668-6676;https://doi.org/10.3390/ijms16046668

24 March 2015

Background: Types A and B Niemann-Pick disease (NPD) are autosomal-recessive lysosomal storage disorders caused by the deficient activity of acid sphingomyelinase due to mutations in the sphingomyelin phosphodiesterase 1 (SMPD1) gene. Methods: In ord...

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Comment

12 Citations

7,107 Views

4 Pages

Alleged Detrimental Mutations in the SMPD1 Gene in Patients with Niemann-Pick Disease

Cosima Rhein,
Christiane Mühle,
Johannes Kornhuber and
Martin Reichel

Int. J. Mol. Sci.2015, 16(6), 13649-13652;https://doi.org/10.3390/ijms160613649

15 June 2015

Loss-of-function mutations in the sphingomyelin phosphodiesterase 1 (SMPD1) gene are associated with decreased catalytic activity of acid sphingomyelinase (ASM) and are the cause of the autosomal recessive lysosomal storage disorder Niemann-Pick dise...

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Review

16 Citations

7,665 Views

21 Pages

The Genetic Basis, Lung Involvement, and Therapeutic Options in Niemann–Pick Disease: A Comprehensive Review

Claudio Tirelli,
Ornella Rondinone,
Marta Italia,
Sabrina Mira,
Luca Alessandro Belmonte,
Mauro De Grassi,
Gabriele Guido,
Sara Maggioni,
Michele Mondoni and
Monica Rosa Miozzo
+ 1 author

Biomolecules2024, 14(2), 211;https://doi.org/10.3390/biom14020211

11 February 2024

Niemann–Pick Disease (NPD) is a rare autosomal recessive disease belonging to lysosomal storage disorders. Three types of NPD have been described: NPD type A, B, and C. NPD type A and B are caused by mutations in the gene SMPD1 coding for sphin...

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Article

20 Citations

4,128 Views

11 Pages

Impact of Intravenous Trehalose Administration in Patients with Niemann–Pick Disease Types A and B

Moein Mobini,
Shabnam Radbakhsh,
Francyne Kubaski,
Peyman Eshraghi,
Saba Vakili,
Rahim Vakili,
Manijeh Khalili,
Majid Varesvazirian,
Tannaz Jamialahmadi and
Seyed Ali Alamdaran
+ 5 authors

J. Clin. Med.2022, 11(1), 247;https://doi.org/10.3390/jcm11010247

4 January 2022

Background and Aims: Niemann–Pick disease (NPD) types A (NPA) and B (NPB) are caused by deficiency of the acid sphingomyelinase enzyme, which is encoded by the SMPD1 gene, resulting in progressive pathogenic accumulation of lipids in tissues. Trehalo...

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