Lista de obras - Agnieszka Karkucinska-Wieckowska

"Drop attacks" as first clinical symptoms in a child carrying MTTK m.8344A>G mutation.

artículo científico publicado en 2013

A Diet Induced Maladaptive Increase in Hepatic Mitochondrial DNA Precedes OXPHOS Defects and May Contribute to Non-Alcoholic Fatty Liver Disease

scientific article published on 08 October 2019

A homozygous mutation in the SCO2 gene causes a spinal muscular atrophy like presentation with stridor and respiratory insufficiency

scientific article published on 29 October 2009

ALK Expression Is a Novel Marker for the WNT-activated Type of Pediatric Medulloblastoma and an Indicator of Good Prognosis for Patients

artículo científico publicado en 2017

Calponin inhibits actin-activated MgATPase of myosin subfragment 1 (S1) without displacing S1 from its binding site on actin

scientific article published on 01 February 1997

Cardiac mitochondrial dysfunction during hyperglycemia--the role of oxidative stress and p66Shc signaling

artículo científico

Case report of an adolescent girl with limb-girdle muscular dystrophy type 2B - the usefulness of muscle protein immunostaining in the diagnosis of dysferlinopathies

artículo científico publicado en 2014

Constitutional mosaicism of a de novo TP53 mutation in a patient with bilateral choroid plexus carcinoma

artículo científico publicado en 2017

Dietary Polyphenols and Mitochondrial Function: Role in Health and Disease.

artículo científico publicado en 2017

Differential Expression of Mitochondrial Biogenesis Markers in Mouse and Human SHH-Subtype Medulloblastoma

scientific article published on 05 March 2019

Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing.

artículo científico publicado en 2016

Disrupted ATP synthase activity and mitochondrial hyperpolarisation-dependent oxidative stress is associated with p66Shc phosphorylation in fibroblasts of NARP patients

artículo científico publicado en 2012

Effect of immunization on nocturnal NAT activity in chicken pineal gland

artículo científico publicado en 2000

Fat and Sugar-A Dangerous Duet. A Comparative Review on Metabolic Remodeling in Rodent Models of Nonalcoholic Fatty Liver Disease

scientific article published on 24 November 2019

Histoenzymatic methods for visualization of the activity of individual mitochondrial respiratory chain complexes in the muscle biopsies from patients with mitochondrial defects

artículo científico publicado en 2015

Identification of a novel inherited ALK variant M1199L in the WNT type of medulloblastoma

artículo científico publicado en 2016

Identification of a novel inherited ALK variant M1199L in the WNT type of medulloblastoma

Immunohistochemical detection of ALK protein identifies APC mutated medulloblastoma and differentiates the WNT-activated medulloblastoma from other types of posterior fossa childhood tumors

artículo científico publicado en 2018

Increased reactive oxygen species (ROS) production and low catalase level in fibroblasts of a girl with MEGDEL association (Leigh syndrome, deafness, 3-methylglutaconic aciduria).

artículo científico publicado en 2011

Left ventricular noncompaction (LVNC) and low mitochondrial membrane potential are specific for Barth syndrome.

artículo científico publicado en 2013

Leigh disease due to SCO2 mutations revealed at extended autopsy.

artículo científico publicado en 2015

Light and electron microscopy characteristics of the muscle of patients with SURF1 gene mutations associated with Leigh disease

artículo científico publicado en 2008

MB-04A NOVEL GERMLINE MUTATION IN ALK GENE (M1199L) IDENTYFIED IN THE WNT TYPE OF MEDULLOBLASTOMA.

artículo científico publicado en 2016

MBRS-18. ALK EXPRESSION AT THE PROTEIN LEVEL IS A MARKER FOR THE DIFFERENTIATION DIAGNOSIS OF THE WNT-ACTIVATED TYPE OF PEDIATRIC MEDULLOBLASTOMA

Medulloblastoma with transitional features between Group 3 and Group 4 is associated with good prognosis.

artículo científico publicado en 2018

Methods to monitor and compare mitochondrial and glycolytic ATP production

artículo científico publicado en 2014

Mitochondria and Reactive Oxygen Species in Aging and Age-Related Diseases

scientific article published on 22 June 2018

Modulation of mitochondrial dysfunction-related oxidative stress in fibroblasts of patients with Leigh syndrome by inhibition of prooxidative p66Shc pathway.

artículo científico publicado en 2017

Molecular identification of CNS NB-FOXR2, CNS EFT-CIC, CNS HGNET-MN1 and CNS HGNET-BCOR pediatric brain tumors using tumor-specific signature genes

scientific article published on 10 July 2020

New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre

artículo científico publicado en 2016

Novel c.191C>G (p.Pro64Arg) MPV17 mutation identified in two pairs of unrelated Polish siblings with mitochondrial hepatoencephalopathy

artículo científico publicado en 2013

OLIG2 is a novel immunohistochemical marker associated with the presence of PAX3/7-FOXO1 translocation in rhabdomyosarcomas

scientific article published on 07 September 2019

Oxidative stress-dependent p66Shc phosphorylation in skin fibroblasts of children with mitochondrial disorders

artículo científico publicado en 2010

P02.03 ALK expression can differentiate the WNT-activated type of medulloblastoma from choroid plexus carcinoma and ependymoma

PGC-1 family coactivators and cell fate: roles in cancer, neurodegeneration, cardiovascular disease and retrograde mitochondria-nucleus signalling

artículo científico publicado en 2012

Post mortem identification of deoxyguanosine kinase (DGUOK) gene mutations combined with impaired glucose homeostasis and iron overload features in four infants with severe progressive liver failure

artículo científico publicado en 2010

Role of Mitochondria-Associated ER Membranes in Calcium Regulation in Cancer-Specific Settings

artículo científico publicado en 2018

TB-09CORRELATION BETWEEN LEVEL OF Shc PROTEINS AND PEDIATRIC BRAIN TUMOR MALIGNANCY.

artículo científico publicado en 2016

The interplay between p66Shc, reactive oxygen species and cancer cell metabolism

artículo científico publicado en 2015

The natural history of SCO2 deficiency in 36 Polish children confirmed the genotype-phenotype correlation

artículo científico publicado en 2013

Transcriptional profiling of paediatric ependymomas identifies prognostically significant groups

artículo científico publicado en 2021

Type of desmin expression in cardiomyocytes - a good marker of heart failure development in idiopathic dilated cardiomyopathy.

artículo científico publicado en 2012

Western Diet Causes Obesity-Induced Nonalcoholic Fatty Liver Disease Development by Differentially Compromising the Autophagic Response

artículo científico publicado en 2020

of an adolescent girl with limb-girdle muscular dystrophy type 2B – the usefulness of muscle protein immunostaining in the diagnosis of dysferlinopathies

p66Shc aging protein in control of fibroblasts cell fate

artículo científico publicado en 2011

Lista de obras de Agnieszka Karkucinska-Wieckowska

"Drop attacks" as first clinical symptoms in a child carrying MTTK m.8344A>G mutation.

A Diet Induced Maladaptive Increase in Hepatic Mitochondrial DNA Precedes OXPHOS Defects and May Contribute to Non-Alcoholic Fatty Liver Disease

A homozygous mutation in the SCO2 gene causes a spinal muscular atrophy like presentation with stridor and respiratory insufficiency

ALK Expression Is a Novel Marker for the WNT-activated Type of Pediatric Medulloblastoma and an Indicator of Good Prognosis for Patients

Calponin inhibits actin-activated MgATPase of myosin subfragment 1 (S1) without displacing S1 from its binding site on actin

Cardiac mitochondrial dysfunction during hyperglycemia--the role of oxidative stress and p66Shc signaling

Case report of an adolescent girl with limb-girdle muscular dystrophy type 2B - the usefulness of muscle protein immunostaining in the diagnosis of dysferlinopathies

Constitutional mosaicism of a de novo TP53 mutation in a patient with bilateral choroid plexus carcinoma

Dietary Polyphenols and Mitochondrial Function: Role in Health and Disease.

Differential Expression of Mitochondrial Biogenesis Markers in Mouse and Human SHH-Subtype Medulloblastoma

Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing.

Disrupted ATP synthase activity and mitochondrial hyperpolarisation-dependent oxidative stress is associated with p66Shc phosphorylation in fibroblasts of NARP patients

Effect of immunization on nocturnal NAT activity in chicken pineal gland

Fat and Sugar-A Dangerous Duet. A Comparative Review on Metabolic Remodeling in Rodent Models of Nonalcoholic Fatty Liver Disease

Histoenzymatic methods for visualization of the activity of individual mitochondrial respiratory chain complexes in the muscle biopsies from patients with mitochondrial defects

Identification of a novel inherited ALK variant M1199L in the WNT type of medulloblastoma

Identification of a novel inherited ALK variant M1199L in the WNT type of medulloblastoma

Immunohistochemical detection of ALK protein identifies APC mutated medulloblastoma and differentiates the WNT-activated medulloblastoma from other types of posterior fossa childhood tumors

Increased reactive oxygen species (ROS) production and low catalase level in fibroblasts of a girl with MEGDEL association (Leigh syndrome, deafness, 3-methylglutaconic aciduria).

Left ventricular noncompaction (LVNC) and low mitochondrial membrane potential are specific for Barth syndrome.

Leigh disease due to SCO2 mutations revealed at extended autopsy.

Light and electron microscopy characteristics of the muscle of patients with SURF1 gene mutations associated with Leigh disease

MB-04A NOVEL GERMLINE MUTATION IN ALK GENE (M1199L) IDENTYFIED IN THE WNT TYPE OF MEDULLOBLASTOMA.

MBRS-18. ALK EXPRESSION AT THE PROTEIN LEVEL IS A MARKER FOR THE DIFFERENTIATION DIAGNOSIS OF THE WNT-ACTIVATED TYPE OF PEDIATRIC MEDULLOBLASTOMA

Medulloblastoma with transitional features between Group 3 and Group 4 is associated with good prognosis.

Methods to monitor and compare mitochondrial and glycolytic ATP production

Mitochondria and Reactive Oxygen Species in Aging and Age-Related Diseases

Modulation of mitochondrial dysfunction-related oxidative stress in fibroblasts of patients with Leigh syndrome by inhibition of prooxidative p66Shc pathway.

Molecular identification of CNS NB-FOXR2, CNS EFT-CIC, CNS HGNET-MN1 and CNS HGNET-BCOR pediatric brain tumors using tumor-specific signature genes

New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre

Novel c.191C>G (p.Pro64Arg) MPV17 mutation identified in two pairs of unrelated Polish siblings with mitochondrial hepatoencephalopathy

OLIG2 is a novel immunohistochemical marker associated with the presence of PAX3/7-FOXO1 translocation in rhabdomyosarcomas

Oxidative stress-dependent p66Shc phosphorylation in skin fibroblasts of children with mitochondrial disorders

P02.03 ALK expression can differentiate the WNT-activated type of medulloblastoma from choroid plexus carcinoma and ependymoma

PGC-1 family coactivators and cell fate: roles in cancer, neurodegeneration, cardiovascular disease and retrograde mitochondria-nucleus signalling

Post mortem identification of deoxyguanosine kinase (DGUOK) gene mutations combined with impaired glucose homeostasis and iron overload features in four infants with severe progressive liver failure

Role of Mitochondria-Associated ER Membranes in Calcium Regulation in Cancer-Specific Settings

TB-09CORRELATION BETWEEN LEVEL OF Shc PROTEINS AND PEDIATRIC BRAIN TUMOR MALIGNANCY.

The interplay between p66Shc, reactive oxygen species and cancer cell metabolism

The natural history of SCO2 deficiency in 36 Polish children confirmed the genotype-phenotype correlation

Transcriptional profiling of paediatric ependymomas identifies prognostically significant groups

Type of desmin expression in cardiomyocytes - a good marker of heart failure development in idiopathic dilated cardiomyopathy.

Western Diet Causes Obesity-Induced Nonalcoholic Fatty Liver Disease Development by Differentially Compromising the Autophagic Response

of an adolescent girl with limb-girdle muscular dystrophy type 2B – the usefulness of muscle protein immunostaining in the diagnosis of dysferlinopathies

p66Shc aging protein in control of fibroblasts cell fate