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Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy.
Pyridoxal 5'-phosphate (PLP), the active form of vitamin B6, functions as a cofactor in humans for more than 140 enzymes, many of which are involved in neurotransmitter synthesis and degradation. AExpand
ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy.
The human mitochondrial genome encodes RNA components of its own translational machinery to produce the 13 mitochondrial-encoded subunits of the respiratory chain. Nuclear-encoded gene products areExpand
TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies
Deficiencies in respiratory-chain complexes lead to a variety of clinical phenotypes resulting from inadequate energy production by the mitochondrial oxidative phosphorylation system. DefectiveExpand
The genotypic and phenotypic spectrum of MTO1 deficiency
Background Mitochondrial diseases, a group of multi-systemic disorders often characterized by tissue-specific phenotypes, are usually progressive and fatal disorders resulting from defects inExpand
Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1
Purpose Biallelic variants in LARS1 , coding for the cytosolic leucyl-tRNA synthetase, cause infantile liver failure syndrome 1 (ILFS1). Since its description in 2012, there has been no systematicExpand
Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia.
We report bi-allelic pathogenic HPDL variants as a cause of a progressive, pediatric-onset spastic movement disorder with variable clinical presentation. The single-exon gene HPDL encodes a proteinExpand
Keratomycosis caused by Dichotomophthoropsis nymphaearum
A case of Dichotomophthoropsis nymphaearum, a dematiaceous hyphomycete, is described from Bangladesh. This species has not previously been reported as a human pathogen. Hyphae were observed in GramExpand
Epilepsy in Aicardi-Goutières syndrome.
BACKGROUND Aicardi-Goutières syndrome (AGS) is a genetically determined early-onset encephalopathy with variable phenotype, including neurologic manifestations such as dystonia, spasticity, epilepticExpand
16S rDNA-PCR and Sequencing Improves Diagnosis of Bacterial Infection of the Central Nervous System
Rapid initiation of antibiotic treatment and fast diagnosis are essential in bacterial infection of the central nervous system (CNS). Culture as common method for detecting bacteria is time consumingExpand