Max Pohjanpelto
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View article: Supernumerary proteins of the human mitochondrial ribosomal small subunit are integral for assembly and translation
Supernumerary proteins of the human mitochondrial ribosomal small subunit are integral for assembly and translation Open
Mitochondrial ribosomes (mitoribosomes) have undergone substantial evolutionary structural remodeling accompanied by loss of ribosomal RNA, while acquiring unique protein subunits located on the periphery. We generated CRISPR-mediated knoc…
View article: Supernumerary proteins of the human mitochondrial ribosomal small subunit are integral for assembly and translation
Supernumerary proteins of the human mitochondrial ribosomal small subunit are integral for assembly and translation Open
Summary Mitochondrial ribosomes (mitoribosomes) have undergone substantial structural remodelling throughout evolution. Compared to their prokaryotic counterparts, mitoribosomes show a substantial loss of ribosomal RNA, whilst acquiring un…
View article: Duplication/triplication mosaicism of EBF3 and expansion of the EBF3 neurodevelopmental disorder phenotype
Duplication/triplication mosaicism of EBF3 and expansion of the EBF3 neurodevelopmental disorder phenotype Open
Deleterious variants in the transcription factor early B-cell factor 3 (EBF3) are known to cause a neurodevelopmental disorder (EBF3-NDD). We report eleven individuals with EBF3 variants, including an individual with a duplication/triplica…
View article: Genetic background of ataxia in children younger than 5 years in Finland
Genetic background of ataxia in children younger than 5 years in Finland Open
There is a high heterogeneity of causative mutations in this cohort despite the defined age at onset, phenotypical overlap between patients, the founder effect, and genetic isolation in the Finnish population. The findings reflect the hete…
View article: Reply to ‘Letter to Editor by Finsterer J and Zarrouk-Mahjoub S: Phenotypic manifestations of the m.8969G>A variant’
Reply to ‘Letter to Editor by Finsterer J and Zarrouk-Mahjoub S: Phenotypic manifestations of the m.8969G>A variant’ Open
View article: Defective mitochondrial ATPase due to rare mtDNA m.8969G>A mutation—causing lactic acidosis, intellectual disability, and poor growth
Defective mitochondrial ATPase due to rare mtDNA m.8969G>A mutation—causing lactic acidosis, intellectual disability, and poor growth Open
View article: Defective mitochondrial RNA processing due to PNPT1 variants causes Leigh syndrome
Defective mitochondrial RNA processing due to PNPT1 variants causes Leigh syndrome Open
Leigh syndrome is a severe infantile encephalopathy with an exceptionally variable genetic background. We studied the exome of a child manifesting with Leigh syndrome at one month of age and progressing to death by the age of 2.4 years, an…