Molecular Genetics and MetabolismOBJECTIVE To describe the phenotype, genotype, neuroimaging features, and outcome of PLPBP-related vitamin B6-dependent epilepsies. We present a systematic review, along with a multicenter case series of patients with PLPBP deficiency.
Brahim Tabarki
exaly +4 more sources
Optimal management after paediatric lumbar puncture: a randomized controlled trial [PDF]
BMC Neurology, 2019 Background To evaluate whether a shorter time of lying supine without a pillow and fasting for solids and liquids (LSFSL) after a lumbar puncture (LP) is associated with a higher risk of post-lumbar puncture headache (PLPH) and post-lumbar puncture lower
Bing Hu +7 more
doaj +3 more sources
Bioscience, Biotechnology, and Biochemistry, 2022 The YggS/PLPBP protein (also called COG0325 or PLPHP) is a conserved pyridoxal 5'-phosphate (PLP)-binding protein present in all three domains of life. Recent studies have demonstrated that disruption or mutation of this protein has multifaceted effects ...
Tomokazu Ito
semanticscholar +3 more sources
Epilepsy Phenotypes of Vitamin B6-Dependent Diseases: An Updated Systematic Review [PDF]
Children, 2023 Background: Vitamin B6-dependent epilepsies include treatable diseases responding to pyridoxine or pyridoxal-5Iphosphate (ALDH7A1 deficiency, PNPO deficiency, PLP binding protein deficiency, hyperprolinemia type II and hypophosphatasia and ...
Mario Mastrangelo +5 more
doaj +2 more sources
Maintenance of cellular vitamin B6 levels and mitochondrial oxidative function depend on pyridoxal 5'-phosphate homeostasis protein. [PDF]
J Biol Chem, 2023 Recently, biallelic variants in PLPBP coding for pyridoxal 5′-phosphate homeostasis protein (PLPHP) were identified as a novel cause of early-onset vitamin B6–dependent epilepsy.
Ciapaite J +11 more
europepmc +2 more sources
Translation Fidelity and Respiration Deficits in CLPP-Deficient Tissues: Mechanistic Insights from Mitochondrial Complexome Profiling. [PDF]
Int J Mol Sci, 2023 Mitochondrial matrix peptidase CLPP is crucial during cell stress. Its loss causes Perrault syndrome type 3 (PRLTS3) with infertility, neurodegeneration and growth deficit.
Key J +5 more
europepmc +2 more sources
The causal effects of 2,821 protein level ratios on non-small cell lung cancer: a two-sample Mendelian randomization study. [PDF]
Transl Cancer Res, 2023 Background Non-small cell lung cancer (NSCLC) has a complex etiology, making early diagnosis difficult and leading to high mortality rates, thus necessitating personalized treatment strategies.
Zou X, Shen J, Li X, Diao Y, Zhang L.
europepmc +2 more sources
Plant Biotechnology Journal, Volume 20, Issue 8, Page 1591-1605, August 2022., 2022 Summary Global warming is a major abiotic stress factor, which limit rice production. Exploiting the genetic basis of the natural variation in heat resistance at different reproductive stages among diverse exotic Oryza germplasms can help breeding heat ...
Zhibin Cao +11 more
semanticscholar +2 more sources
On pathways and blind alleys—The importance of biomarkers in vitamin B6‐dependent epilepsies
Journal of Inherited Metabolic Disease, Volume 46, Issue 5, Page 839-847, September 2023., 2023 Over the past two decades, the field of vitamin B6‐dependent epilepsies has evolved by the recognition of a growing number of gene defects (ALDH7A1, PNPO, ALPL, ALDH4A1, PLPBP as well as defects of the glycosylphosphatidylinositol anchor proteins) that ...
B. Plecko
semanticscholar +2 more sources
Chromothriptic Translocation t(1;18): A Paradigm of Genomic Complexity in a Child with Normal Intellectual Development and Pyridoxine-Dependent Epilepsy. [PDF]
Genes (Basel)Background: Pyridoxine-dependent epilepsy (PDE) is a rare disorder characterized by seizures resistant to conventional treatments but responsive to pyridoxine therapy.
Falsaperla R +13 more
europepmc +2 more sources