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Suzanne Jackowski

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Articles 79
Citations 3548
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Recent Articles
1.
Tangallapally R, Subramanian C, Yun M, Edwards A, Sharma L, Yang L, et al.
J Med Chem . 2024 Aug; 67(16):14432-14442. PMID: 39136313
Conversion of pantothenate to phosphopantothenate in humans is the first dedicated step in the coenzyme A (CoA) biosynthesis pathway and is mediated by four isoforms of pantothenate kinase. These enzymes...
2.
Subramanian C, Frank M, Sukhun R, Henry C, Wade A, Harden M, et al.
J Pharmacol Exp Ther . 2023 Oct; 388(1):171-180. PMID: 37875310
Pantothenate kinase-associated neurodegeneration (PKAN) is characterized by a motor disorder with combinations of dystonia, parkinsonism, and spasticity, leading to premature death. PKAN is caused by mutations in the gene that...
3.
Cikes D, Elsayad K, Sezgin E, Koitai E, Torma F, Orthofer M, et al.
Nat Metab . 2023 Apr; 5(4):711. PMID: 37024756
No abstract available.
4.
Cikes D, Elsayad K, Sezgin E, Koitai E, Torma F, Orthofer M, et al.
Nat Metab . 2023 Mar; 5(3):495-515. PMID: 36941451
Muscle degeneration is the most prevalent cause for frailty and dependency in inherited diseases and ageing. Elucidation of pathophysiological mechanisms, as well as effective treatments for muscle diseases, represents an...
5.
Subramanian C, Frank M, Tangallapally R, Yun M, White S, Lee R, et al.
J Inherit Metab Dis . 2022 Oct; 46(1):28-42. PMID: 36251252
Propionic acidemia (PA, OMIM 606054) is a devastating inborn error of metabolism arising from mutations that reduce the activity of the mitochondrial enzyme propionyl-CoA carboxylase (PCC). The defects in PCC...
6.
Li Y, Steinberg J, Coleman Z, Wang S, Subramanian C, Li Y, et al.
J Transl Med . 2022 Feb; 20(1):103. PMID: 35197056
Background: Pantothenate kinase (PANK) is the first and rate-controlling enzymatic step in the only pathway for cellular coenzyme A (CoA) biosynthesis. PANK-associated neurodegeneration (PKAN), formerly known as Hallervorden-Spatz disease, is...
7.
Sharma L, Yun M, Subramanian C, Tangallapally R, Jackowski S, Rock C, et al.
Bioorg Med Chem . 2021 Nov; 52:116504. PMID: 34814071
Pantothenate kinase (PANK) is the critical regulator of intracellular levels of coenzyme A and has emerged as an attractive target for treating neurological and metabolic disorders. This report describes the...
8.
Audam T, Howard C, Garrett L, Zheng Y, Bradley J, Brittian K, et al.
Am J Physiol Heart Circ Physiol . 2021 Sep; 321(4):H784-H797. PMID: 34533403
Coenzyme A (CoA) is an essential cofactor required for intermediary metabolism. Perturbations in homeostasis of CoA have been implicated in various pathologies; however, whether CoA homeostasis is changed and the...
9.
Subramanian C, Frank M, Tangallapally R, Yun M, Edwards A, White S, et al.
Sci Transl Med . 2021 Sep; 13(611):eabf5965. PMID: 34524863
Propionic acidemia (PA) is a rare autosomal-recessive metabolic disease that arises from mutations in propionyl-CoA (C3-CoA) carboxylase. Reduced enzyme activity slows C3-CoA metabolism, leading to an elevated plasma C3:C2-carnitine ratio,...
10.
Fu G, Guy C, Chapman N, Palacios G, Wei J, Zhou P, et al.
Nature . 2021 Jul; 595(7869):724-729. PMID: 34234346
T follicular helper (T) cells are crucial for B cell-mediated humoral immunity. Although transcription factors such as BCL6 drive the differentiation of T cells, it is unclear whether and how...