Clinical and genetic delineation of neurodegeneration with brain iron accumulation
A Gregory, BJ Polster, SJ Hayflick - Journal of medical genetics, 2009 - jmg.bmj.com
Neurodegeneration with brain iron accumulation (NBIA) describes a group of progressive
neurodegenerative disorders characterised by high brain iron and the presence of axonal …
neurodegenerative disorders characterised by high brain iron and the presence of axonal …
Coenzyme A biosynthesis: an antimicrobial drug target
Pantothenic acid, a precursor of coenzyme A (CoA), is essential for the growth of pathogenic
microorganisms. Since the structure of pantothenic acid was determined, many analogues of …
microorganisms. Since the structure of pantothenic acid was determined, many analogues of …
[HTML][HTML] Correction of both NBD1 energetics and domain interface is required to restore ΔF508 CFTR folding and function
The folding and misfolding mechanism of multidomain proteins remains poorly understood.
Although thermodynamic instability of the first nucleotide-binding domain (NBD1) of ΔF508 …
Although thermodynamic instability of the first nucleotide-binding domain (NBD1) of ΔF508 …
Probing coenzyme A homeostasis with semisynthetic biosensors
Coenzyme A (CoA) is one of the central cofactors of metabolism, yet a method for measuring
its concentration in living cells is missing. Here we introduce the first biosensor for …
its concentration in living cells is missing. Here we introduce the first biosensor for …
Mitochondrial dysfunction, oxidative stress and neuroinflammation in neurodegeneration with brain iron accumulation (NBIA)
I Hinarejos, C Machuca, P Sancho, C Espinós - Antioxidants, 2020 - mdpi.com
The syndromes of neurodegeneration with brain iron accumulation (NBIA) encompass a
group of invalidating and progressive rare diseases that share the abnormal accumulation of …
group of invalidating and progressive rare diseases that share the abnormal accumulation of …
A distinct metabolic signature of human colorectal cancer with prognostic potential
Purpose: Metabolic phenotyping has provided important biomarker findings, which,
unfortunately, are rarely replicated across different sample sets due to the variations from …
unfortunately, are rarely replicated across different sample sets due to the variations from …
Antimalarial pantothenamide metabolites target acetyl–coenzyme A biosynthesis in Plasmodium falciparum
J Schalkwijk, EL Allman, PAM Jansen… - Science translational …, 2019 - science.org
Malaria eradication is critically dependent on new therapeutics that target resistant
Plasmodium parasites and block transmission of the disease. Here, we report that …
Plasmodium parasites and block transmission of the disease. Here, we report that …
Thermal denaturation assays in chemical biology
G Senisterra, I Chau, M Vedadi - Assay and drug development …, 2012 - liebertpub.com
Thermal denaturation-based methods are becoming increasingly used to characterize
protein stability and interactions. Recent technical advances have made these methods …
protein stability and interactions. Recent technical advances have made these methods …
Insights into molecular mechanisms of disease in neurodegeneration with brain iron accumulation: unifying theories
Neurodegeneration with brain iron accumulation (NBIA) is a group of disorders
characterized by dystonia, parkinsonism and spasticity. Iron accumulates in the basal …
characterized by dystonia, parkinsonism and spasticity. Iron accumulates in the basal …
A therapeutic approach to pantothenate kinase associated neurodegeneration
LK Sharma, C Subramanian, MK Yun, MW Frank… - Nature …, 2018 - nature.com
Pantothenate kinase (PANK) is a metabolic enzyme that regulates cellular coenzyme A
(CoA) levels. There are three human PANK genes, and inactivating mutations in PANK2 …
(CoA) levels. There are three human PANK genes, and inactivating mutations in PANK2 …