Daniel S Ory
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Explore the profile of Daniel S Ory including associated specialties, affiliations and a list of published articles.
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148
Citations
7165
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Recent Articles
1.
Mishra S, Kell P, Scherrer D, Dietzen D, Vite C, Berry-Kravis E, et al.
J Lipid Res
. 2024 Jul;
65(8):100600.
PMID: 39048052
Lysosomal function is impaired in Niemann-Pick disease type C1 (NPC1), a rare and inherited neurodegenerative disorder, resulting in late endosomal/lysosomal accumulation of unesterified cholesterol. The precise pathogenic mechanism of NPC1...
2.
Kell P, Sidhu R, Qian M, Mishra S, Nicoli E, DSouza P, et al.
EBioMedicine
. 2023 Jun;
92:104627.
PMID: 37267847
Background: GM1 gangliosidosis is a rare, fatal, neurodegenerative disease caused by mutations in the GLB1 gene and deficiency in β-galactosidase. Delay of symptom onset and increase in lifespan in a...
3.
Bedard M, Niet S, Bernard E, Babunovic G, Cheng T, Aylan B, et al.
J Clin Invest
. 2023 Feb;
133(6).
PMID: 36757797
Induction of lipid-laden foamy macrophages is a cellular hallmark of tuberculosis (TB) disease, which involves the transformation of infected phagolysosomes from a site of killing into a nutrient-rich replicative niche....
4.
Dang Do A, Chang I, Jiang X, Wolfe L, Ng B, Lam C, et al.
J Inherit Metab Dis
. 2023 Jan;
46(2):326-334.
PMID: 36719165
Congenital disorders of glycosylation (CDG) and Niemann-Pick type C (NPC) disease are inborn errors of metabolism that can both present with infantile-onset severe liver disease and other multisystemic manifestations. Plasma...
5.
DeBarry J, Nural M, Pakala S, Nayak V, Warrenfeltz S, Humphrey J, et al.
Sci Data
. 2022 Nov;
9(1):722.
PMID: 36433985
Plasmodium cynomolgi causes zoonotic malarial infections in Southeast Asia and this parasite species is important as a model for Plasmodium vivax and Plasmodium ovale. Each of these species produces hypnozoites...
6.
Jiang X, Ory D
Explor Neuroprotective Ther
. 2022 Mar;
1(3):146-158.
PMID: 35356760
Niemann-Pick C is a rare neurodegenerative, lysosomal storage disease caused by accumulation of unesterified cholesterol. Diagnosis of the disease is often delayed due to its rarity, the heterogeneous presentation and...
7.
Sletten A, Davidson J, Yagabasan B, Moores S, Schwaiger-Haber M, Fujiwara H, et al.
Nat Commun
. 2021 Nov;
12(1):6993.
PMID: 34819504
No abstract available.
8.
Prabhu A, Kang I, De Pace R, Wassif C, Fujiwara H, Kell P, et al.
BMC Biol
. 2021 Oct;
19(1):218.
PMID: 34592985
Background: Niemann-Pick disease, type C (NPC) is a childhood-onset, lethal, neurodegenerative disorder caused by autosomal recessive mutations in the genes NPC1 or NPC2 and characterized by impaired cholesterol homeostasis, a...
9.
Tiscione S, Casas M, Horvath J, Lam V, Hino K, Ory D, et al.
Proc Natl Acad Sci U S A
. 2021 Sep;
118(40).
PMID: 34580197
Ca is the most ubiquitous second messenger in neurons whose spatial and temporal elevations are tightly controlled to initiate and orchestrate diverse intracellular signaling cascades. Numerous neuropathologies result from mutations...
10.
Pipalia N, Saad S, Subramanian K, Cross A, Al-Motawa A, Garg K, et al.
J Lipid Res
. 2021 Sep;
62:100114.
PMID: 34481829
Niemann-Pick type C1 (NPC1) disease is a lysosomal lipid storage disorder caused by mutations of the NPC1 gene. More than 300 disease-associated mutations are reported in patients, resulting in abnormal...