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Camilla Maffezzini

Karolinska Institutet

15

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281

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SETBP1 accumulation induces P53 inhibition and genotoxic stress in neural progenitors underlying neurodegeneration in Schinzel-Giedion syndrome.

2021 Nature Communications
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Severe congenital lactic acidosis and hypertrophic cardiomyopathy caused by an intronic variant in NDUFB7.

2021 Human Mutation
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Metabolic regulation of neurodifferentiation in the adult brain

2020 Cellular and Molecular Life Sciences
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Defects of mitochondrial RNA turnover lead to the accumulation of double-stranded RNA in vivo

2019 PLOS Genetics
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Metabolic disorders : genes and mechanisms

2019
- Camilla Maffezzini
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Mutations in the mitochondrial tryptophanyl‐tRNA synthetase cause growth retardation and progressive leukoencephalopathy

2019 Molecular Genetics & Genomic Medicine
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C6orf203 is an RNA-binding protein involved in mitochondrial protein synthesis

2019 Nucleic Acids Research
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Absence of TXNIP in Humans Leads to Lactic Acidosis and Low Serum Methionine Linked to Deficient Respiration on Pyruvate

2019 Diabetes
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Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy

2016 American Journal of Human Genetics
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Mitochondrial Polyadenylation Is a One-Step Process Required for mRNA Integrity and tRNA Maturation

2016 PLOS Genetics
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