[HTML][HTML] Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options
AW El-Hattab, F Scaglia - Neurotherapeutics, 2013 - Elsevier
Mitochondrial DNA (mtDNA) depletion syndromes (MDS) are a genetically and clinically
heterogeneous group of autosomal recessive disorders that are characterized by a severe …
heterogeneous group of autosomal recessive disorders that are characterized by a severe …
Neuroimaging in mitochondrial disorders
M Mascalchi, M Montomoli, R Guerrini - Essays in Biochemistry, 2018 - portlandpress.com
MRI and 1H magnetic resonance spectroscopy (1HMRS) are the main neuroimaging
methods to study mitochondrial diseases. MRI can demonstrate seven 'elementary'central …
methods to study mitochondrial diseases. MRI can demonstrate seven 'elementary'central …
Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene
J Uusimaa, J Evans, C Smith, A Butterworth… - European Journal of …, 2014 - nature.com
Mitochondrial DNA (mtDNA) depletion syndromes (MDS) are severe autosomal recessive
disorders associated with decreased mtDNA copy number in clinically affected tissues. The …
disorders associated with decreased mtDNA copy number in clinically affected tissues. The …
MPV17‐related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects
Mitochondrial DNA (mtDNA) maintenance defects are a group of diseases caused by
deficiency of proteins involved in mtDNA synthesis, mitochondrial nucleotide supply, or …
deficiency of proteins involved in mtDNA synthesis, mitochondrial nucleotide supply, or …
Clinical and molecular characteristics of mitochondrial DNA depletion syndrome associated with neonatal cholestasis and liver failure
Objective To determine the frequency of mitochondrial DNA depletion syndrome (MDS) in
infants with cholestasis and liver failure and to further clarify the clinical, biochemical …
infants with cholestasis and liver failure and to further clarify the clinical, biochemical …
The role of the Mpv17 protein mutations of which cause mitochondrial DNA depletion syndrome (MDDS): lessons from homologs in different species
S Löllgen, H Weiher - Biological chemistry, 2015 - degruyter.com
Mitochondrial DNA depletion syndromes (MDDS) are severe pediatric diseases with diverse
clinical manifestations. Gene mutations that underlie MDDS have been associated with …
clinical manifestations. Gene mutations that underlie MDDS have been associated with …
MPV17 mutations are associated with a quiescent energetic metabolic profile
S Jacinto, P Guerreiro, RM De Oliveira… - Frontiers in cellular …, 2021 - frontiersin.org
Mutations in the MPV17 gene are associated with hepatocerebral form of mitochondrial
depletion syndrome. The mechanisms through which MPV17 mutations cause respiratory …
depletion syndrome. The mechanisms through which MPV17 mutations cause respiratory …
Mitochondrial depletion syndromes in children and adults
J Finsterer, U Ahting - Canadian journal of neurological sciences, 2013 - cambridge.org
To highlight differences between early-onset and adult mitochondrial depletion syndromes
(MDS) concerning etiology and genetic background, pathogenesis, phenotype, clinical …
(MDS) concerning etiology and genetic background, pathogenesis, phenotype, clinical …
Congenital genetic inborn errors of metabolism presenting as an adult or persisting into adulthood: neuroimaging in the more common or recognizable disorders
SH Krishna, AM McKinney, LT Lucato - Seminars in Ultrasound, CT and …, 2014 - Elsevier
Numerous congenital-genetic inborn errors of metabolism (CIEMs) have been identified and
characterized in detail within recent decades, with promising therapeutic options …
characterized in detail within recent decades, with promising therapeutic options …
[HTML][HTML] MPV17-related mitochondrial DNA maintenance defect
AW El-Hattab, J Wang, H Dai, M Almannai, F Scaglia… - 2018 - europepmc.org
MPV17-related mitochondrial DNA (mtDNA) maintenance defect presents in the vast
majority of affected individuals as an early-onset encephalohepatopathic (hepatocerebral) …
majority of affected individuals as an early-onset encephalohepatopathic (hepatocerebral) …