[HTML][HTML] Isolated methylmalonic acidemia

I Manoli, JL Sloan, CP Venditti - 2016 - europepmc.org
For this GeneReview, the term" isolated methylmalonic acidemia" refers to a group of inborn
errors of metabolism associated with elevated methylmalonic acid (MMA) concentration in …

Genomic sequencing for newborn screening: results of the NC NEXUS project

TS Roman, SB Crowley, MI Roche… - The American Journal of …, 2020 - cell.com
Newborn screening (NBS) was established as a public health program in the 1960s and is
crucial for facilitating detection of certain medical conditions in which early intervention can …

Initiation of fatty acid biosynthesis in Pseudomonas putida KT2440

KJ McNaught, E Kuatsjah, M Zahn, ÉT Prates… - Metabolic …, 2023 - Elsevier
Deciphering the mechanisms of bacterial fatty acid biosynthesis is crucial for both the
engineering of bacterial hosts to produce fatty acid-derived molecules and the development …

Heterogenous clinical landscape in a consanguineous malonic aciduria family

S Snanoudj, S Torre, B Sudrié-Arnaud… - International journal of …, 2021 - mdpi.com
Malonic aciduria is an extremely rare inborn error of metabolism due to malonyl-CoA
decarboxylase deficiency. This enzyme is encoded by the MLYCD (Malonyl-CoA …

Biosynthesis of t-Butyl in Apratoxin A: Functional Analysis and Architecture of a PKS Loading Module

MA Skiba, AP Sikkema, NA Moss, AN Lowell… - ACS chemical …, 2018 - ACS Publications
The unusual feature of at-butyl group is found in several marine-derived natural products
including apratoxin A, a Sec61 inhibitor produced by the cyanobacterium Moorea bouillonii …

A mononuclear iron-dependent methyltransferase catalyzes initial steps in assembly of the apratoxin A polyketide starter unit

MA Skiba, AP Sikkema, NA Moss, CL Tran… - ACS chemical …, 2017 - ACS Publications
Natural product biosynthetic pathways contain a plethora of enzymatic tools to carry out
difficult biosynthetic transformations. Here, we discover an unusual mononuclear iron …

Molecular Targets and Small Molecules Modulating Acetyl Coenzyme A in Physiology and Diseases

H Ewida, H Benson, S Tareq… - ACS Pharmacology & …, 2024 - ACS Publications
Acetyl coenzyme A (acetyl-CoA), a pivotal regulatory metabolite, is a product of numerous
catabolic reactions and a substrate for various anabolic responses. Its role extends to crucial …

Repurposing the GNAT fold in the initiation of polyketide biosynthesis

MA Skiba, CL Tran, Q Dan, AP Sikkema, Z Klaver… - Structure, 2020 - cell.com
Natural product biosynthetic pathways are replete with enzymes repurposed for new
catalytic functions. In some modular polyketide synthase (PKS) pathways, a GCN5-related N …

Crystal structure of a Pseudomonas malonate decarboxylase holoenzyme hetero-tetramer

R Maderbocus, BL Fields, K Hamilton, S Luo… - Nature …, 2017 - nature.com
Pseudomonas species and other aerobic bacteria have a biotin-independent malonate
decarboxylase that is crucial for their utilization of malonate as the sole carbon and energy …

A single amino acid mutation converts (R)-5-diphosphomevalonate decarboxylase into a kinase

K Motoyama, H Unno, A Hattori, T Takaoka… - Journal of Biological …, 2017 - ASBMB
The biosynthesis of isopentenyl diphosphate, a fundamental precursor for isoprenoids, via
the mevalonate pathway is completed by diphosphomevalonate decarboxylase. This …