Diagnostic Utility of the ATG9A Ratio in AP‐4–Associated Hereditary Spastic Paraplegia
ABSTRACT Adaptor protein complex 4–associated hereditary spastic paraplegia (AP‐4‐HSP), a childhood‐onset neurogenetic disorder and frequent mimic of cerebral palsy, is caused by biallelic variants in the adaptor protein complex 4 (AP‐4) subunit genes (AP4B1 [for SPG47], AP4M1 [for SPG50], AP4E1 [for SPG51], and AP4S1 [for SPG52]).
Habibah A. P. Agianda +12 more
wiley +1 more source
Progress and prospects in metabolic engineering approaches for isoprenoid biosynthesis in microalgae. [PDF]
Mohamadnia S +3 more
europepmc +1 more source
Metabolic engineering of clostridium acetobutylicum for the production of fuels and chemicals
Ngoc-Phuong-Thao Nguyen
openalex +1 more source
TBK1‐Associated Primary Lateral Sclerosis Followed by Right Temporal Variant Frontotemporal Dementia
ABSTRACT We report a 58‐year‐old woman with a novel splice‐site variant in the TANK‐binding kinase 1 (TBK1:c.993–2A>C p.Ala332TyrfsTer39) who sequentially developed primary lateral sclerosis (PLS) followed by right temporal variant frontotemporal dementia (rtvFTD). Neuroimaging demonstrated right anterior temporal atrophy before cognitive symptoms, and
Tomoyasu Matsubara +18 more
wiley +1 more source
Astaxanthin Overproduction Enhanced by Metabolomics-Guided Rational Metabolic Engineering in <i>Synechococcus</i> sp. PCC 7002. [PDF]
Ida K +8 more
europepmc +1 more source
Objective This study examined the global and regional temporal changes in cross‐country inequalities of site‐specific osteoarthritis (OA) burden from 1990 to 2021. Methods Age‐standardized years lived with disability rates (ASYRs) for site‐specific OA across 204 countries and territories were obtained from the Global Burden of Diseases, Injuries, and ...
Haowei Chen +14 more
wiley +1 more source
CRISPR/Cas9-Mediated Metabolic Engineering of Endophytic <i>Pseudomonas loganensis</i> sp. nov. for the Production of Nutritionally Valuable Carotenoids. [PDF]
Arslansoy N, Karaman MZ, Fidan O.
europepmc +1 more source
Objective Although treat‐to‐target urate‐lowering therapy (ULT) is endorsed as best practice in gout management, limited data exist on its impact on health‐related quality of life (HRQoL). We assessed the impact of treat‐to‐target ULT on HRQoL among participants receiving protocolized gout care, identifying factors associated with HRQoL and HRQoL ...
Austin Barry +16 more
wiley +1 more source
Metabolic Engineering of Terpenoid Biosynthesis in Medicinal Plants: From Genomic Insights to Biotechnological Applications. [PDF]
Guo C, Xu S, Guo X.
europepmc +1 more source

