PubMed (GeneRIF) for id: 6609

Year	Number of Results
2002	3
2003	5
2004	4
2005	9
2006	3
2007	4
2008	7
2009	9
2010	6
2011	4
2012	8
2013	8
2014	8
2015	11
2016	22
2017	6
2018	2
2019	3
2020	13
2021	8
2022	1
2023	5
2024	1

1

Acid sphingomyelinase as a pathological and therapeutic target in neurological disorders: focus on Alzheimer's disease.

Choi BJ, Park MH, Jin HK, Bae JS. Choi BJ, et al. Exp Mol Med. 2024 Feb;56(2):301-310. doi: 10.1038/s12276-024-01176-4. Epub 2024 Feb 9. Exp Mol Med. 2024. PMID: 38337058 Free PMC article. Review.

2

Effect of acid sphingomyelinase deficiency in type A Niemann-Pick disease on the transport of therapeutic nanocarriers across the blood-brain barrier.

Loeck M, Placci M, Muro S. Loeck M, et al. Drug Deliv Transl Res. 2023 Dec;13(12):3077-3093. doi: 10.1007/s13346-023-01374-z. Epub 2023 Jun 21. Drug Deliv Transl Res. 2023. PMID: 37341882

3

Acid sphingomyelinase expression is associated with survival in resectable pancreatic ductal adenocarcinoma.

Wilson GC, Patel SH, Wang J, Xu K, Turner KM, Becker KA, Carpinteiro A, Szabo I, Ahmad SA, Gulbins E. Wilson GC, et al. J Mol Med (Berl). 2023 Jul;101(7):891-903. doi: 10.1007/s00109-023-02331-6. Epub 2023 May 29. J Mol Med (Berl). 2023. PMID: 37246980 Free PMC article.

4

SMPD1 expression profile and mutation landscape help decipher genotype-phenotype association and precision diagnosis for acid sphingomyelinase deficiency.

Wang R, Qin Z, Huang L, Luo H, Peng H, Zhou X, Zhao Z, Liu M, Yang P, Shi T. Wang R, et al. Hereditas. 2023 Mar 13;160(1):11. doi: 10.1186/s41065-023-00272-1. Hereditas. 2023. PMID: 36907956 Free PMC article.

5

Acid sphingomyelinase deficiency (ASMD): addressing knowledge gaps in unmet needs and patient journey in Italy-a Delphi consensus.

Scarpa M, Barbato A, Bisconti A, Burlina A, Concolino D, Deodato F, Di Rocco M, Dionisi-Vici C, Donati MA, Fecarotta S, Fiumara A, Galeone C, Giona F, Giuffrida G, Manna R, Mariani P, Pession A, Scopinaro A, Spada M, Spandonaro F, Trifirò G, Carubbi F, Cappellini MD. Scarpa M, et al. Intern Emerg Med. 2023 Apr;18(3):831-842. doi: 10.1007/s11739-023-03238-3. Epub 2023 Mar 7. Intern Emerg Med. 2023. PMID: 36882619

6

SMPD1 gene variants in patients with β-Thalassemia major.

Dursun FE, Özen F. Dursun FE, et al. Mol Biol Rep. 2023 Apr;50(4):3355-3363. doi: 10.1007/s11033-023-08275-x. Epub 2023 Feb 1. Mol Biol Rep. 2023. PMID: 36725747 Free PMC article.

7

Activation of Sphingomyelinase-Ceramide-Pathway in COVID-19 Purposes Its Inhibition for Therapeutic Strategies.

Abusukhun M, Winkler MS, Pöhlmann S, Moerer O, Meissner K, Tampe B, Hofmann-Winkler H, Bauer M, Gräler MH, Claus RA. Abusukhun M, et al. Front Immunol. 2021 Dec 20;12:784989. doi: 10.3389/fimmu.2021.784989. eCollection 2021. Front Immunol. 2021. PMID: 34987511 Free PMC article.

8

Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68 Iranian Patients.

Abtahi R, Karimzadeh P, Rezayi A, Salehpour S, Akbarzadeh D, Tonekaboni SH, Emameh RZ, Houshmand M. Abtahi R, et al. J Mol Neurosci. 2022 Mar;72(3):555-564. doi: 10.1007/s12031-021-01907-6. Epub 2021 Sep 23. J Mol Neurosci. 2022. PMID: 34554397

9

Acid Sphingomyelinase, a Lysosomal and Secretory Phospholipase C, Is Key for Cellular Phospholipid Catabolism.

Breiden B, Sandhoff K. Breiden B, et al. Int J Mol Sci. 2021 Aug 20;22(16):9001. doi: 10.3390/ijms22169001. Int J Mol Sci. 2021. PMID: 34445706 Free PMC article. Review.

10

Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiency.

Deshpande D, Gupta SK, Sarma AS, Ranganath P, Jain S JMN, Sheth J, Mistri M, Gupta N, Kabra M, Phadke SR, Girisha KM, Dua Puri R, Aggarwal S, Datar C, Mandal K, Tilak P, Muranjan M, Bijarnia-Mahay S, Rama Devi A R, Tayade NB, Ranjan A, Dalal AB. Deshpande D, et al. Hum Mutat. 2021 Oct;42(10):1336-1350. doi: 10.1002/humu.24263. Epub 2021 Aug 3. Hum Mutat. 2021. PMID: 34273913

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