Lista de obras - Christopher B Jackson - Dominio Público Uruguay

3D Co-culture of hiPSC-Derived Cardiomyocytes With Cardiac Fibroblasts Improves Tissue-Like Features of Cardiac Spheroids

artículo científico publicado en 2020

A novel mitochondrial ATP6 frameshift mutation causing isolated complex V deficiency, ataxia and encephalomyopathy

artículo científico publicado en 2017

A novel mutation in BCS1L associated with deafness, tubulopathy, growth retardation and microcephaly

artículo científico publicado en 2015

A variant in MRPS14 (uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and neurological involvement

artículo científico publicado en 2019

Calcification of vascular smooth muscle cells is induced by secondary calciprotein particles and enhanced by tumor necrosis factor-α.

artículo científico publicado en 2016

Defective mitochondrial ATPase due to rare mtDNA m.8969G>A mutation-causing lactic acidosis, intellectual disability, and poor growth

artículo científico publicado en 2018

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.

artículo científico publicado en 2015

Fibroblast Growth Factor 21 Drives Dynamics of Local and Systemic Stress Responses in Mitochondrial Myopathy with mtDNA Deletions

scientific article published on 12 September 2019

Heterologous expression from the human D-Loop in organello

artículo científico publicado en 2014

Loss of mtDNA activates astrocytes and leads to spongiotic encephalopathy

artículo científico publicado en 2018

Mitochondrial leucine tRNA level and PTCD1 are regulated in response to leucine starvation

article

Mitochondrial outer membrane proteome of Trypanosoma brucei reveals novel factors required to maintain mitochondrial morphology

artículo científico publicado en 2012

Mitochondrial stress response triggered by defects in protein synthesis quality control

artículo científico publicado en 2019

Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome

artículo científico publicado en 2011

Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency

artículo científico publicado en 2013

Near-complete elimination of mutant mtDNA by iterative or dynamic dose-controlled treatment with mtZFNs

artículo científico publicado en 2016

Neutrophil extracellular trap formation requires OPA1-dependent glycolytic ATP production

artículo científico publicado en 2018

Novel mitochondrial tRNA(Ile) m.4282A>G gene mutation leads to chronic progressive external ophthalmoplegia plus phenotype

artículo científico publicado en 2014

Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome

artículo científico publicado en 2019

Quantitative 1-step DNA methylation analysis with native genomic DNA as template.

artículo científico publicado en 2010

Reply to 'Letter to Editor by Finsterer J and Zarrouk-Mahjoub S: Phenotypic manifestations of the m.8969G>A variant'

artículo científico publicado en 2018

SDHA mutation with dominant transmission results in complex II deficiency with ocular, cardiac, and neurologic involvement

artículo científico publicado en 2016

SUCLA2 mutations cause global protein succinylation contributing to the pathomechanism of a hereditary mitochondrial disease

artículo científico publicado en 2020

Therapeutic Manipulation of mtDNA Heteroplasmy: A Shifting Perspective

artículo científico publicado en 2020

Trypanosomal TAC40 constitutes a novel subclass of mitochondrial β-barrel proteins specialized in mitochondrial genome inheritance.

artículo científico publicado en 2014

mTORC1 Regulates Mitochondrial Integrated Stress Response and Mitochondrial Myopathy Progression.

artículo científico publicado en 2017

qPCR-based mitochondrial DNA quantification: influence of template DNA fragmentation on accuracy.

artículo científico

Lista de obras de Christopher B Jackson

3D Co-culture of hiPSC-Derived Cardiomyocytes With Cardiac Fibroblasts Improves Tissue-Like Features of Cardiac Spheroids

A novel mitochondrial ATP6 frameshift mutation causing isolated complex V deficiency, ataxia and encephalomyopathy

A novel mutation in BCS1L associated with deafness, tubulopathy, growth retardation and microcephaly

A variant in MRPS14 (uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and neurological involvement

Calcification of vascular smooth muscle cells is induced by secondary calciprotein particles and enhanced by tumor necrosis factor-α.

Defective mitochondrial ATPase due to rare mtDNA m.8969G>A mutation-causing lactic acidosis, intellectual disability, and poor growth

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.

Fibroblast Growth Factor 21 Drives Dynamics of Local and Systemic Stress Responses in Mitochondrial Myopathy with mtDNA Deletions

Heterologous expression from the human D-Loop in organello

Loss of mtDNA activates astrocytes and leads to spongiotic encephalopathy

Mitochondrial leucine tRNA level and PTCD1 are regulated in response to leucine starvation

Mitochondrial outer membrane proteome of Trypanosoma brucei reveals novel factors required to maintain mitochondrial morphology

Mitochondrial stress response triggered by defects in protein synthesis quality control

Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome

Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency

Near-complete elimination of mutant mtDNA by iterative or dynamic dose-controlled treatment with mtZFNs

Neutrophil extracellular trap formation requires OPA1-dependent glycolytic ATP production

Novel mitochondrial tRNA(Ile) m.4282A>G gene mutation leads to chronic progressive external ophthalmoplegia plus phenotype

Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome

Quantitative 1-step DNA methylation analysis with native genomic DNA as template.

Reply to 'Letter to Editor by Finsterer J and Zarrouk-Mahjoub S: Phenotypic manifestations of the m.8969G>A variant'

SDHA mutation with dominant transmission results in complex II deficiency with ocular, cardiac, and neurologic involvement

SUCLA2 mutations cause global protein succinylation contributing to the pathomechanism of a hereditary mitochondrial disease

Therapeutic Manipulation of mtDNA Heteroplasmy: A Shifting Perspective

Trypanosomal TAC40 constitutes a novel subclass of mitochondrial β-barrel proteins specialized in mitochondrial genome inheritance.

mTORC1 Regulates Mitochondrial Integrated Stress Response and Mitochondrial Myopathy Progression.

qPCR-based mitochondrial DNA quantification: influence of template DNA fragmentation on accuracy.