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HACE1 builds molecular crosstalks between rare diseases and (more) common disorders

Clinical and translational medicine, 2022-06, Vol.12 (6), p.e922-n/a

Tort, Frederic

2022

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Lipoic acid biosynthesis defects

Journal of inherited metabolic disease, 2014-07, Vol.37 (4), p.553-563

2014

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Evaluation of the Influence of a Chemical Inhibitor on Asphaltene Destabilization and Deposition Mechanisms under Atmospheric and Oil Production Conditions Using QCM and AFM Techniques

Energy & fuels, 2021-11, Vol.35 (21), p.17551-17565

2021

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Differential diagnosis of lipoic acid synthesis defects

Journal of inherited metabolic disease, 2016-11, Vol.39 (6), p.781-793

2016

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Functional Evidence of CCDC186 as a New Disease-Associated Gene with Endocrine and Central Nervous System Alterations

International journal of molecular sciences, 2023-08, Vol.24 (15), p.12319

2023

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Implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns

Orphanet journal of rare diseases, 2021-04, Vol.16 (1), p.1-195, Article 195

2021

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Lysine Restriction and Pyridoxal Phosphate Administration in a NADK2 Patient

Pediatrics (Evanston), 2016-11, Vol.138 (5)

2016

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Diagnostic Odyssey in an Adult Patient with Ophthalmologic Abnormalities and Hearing Loss: Contribution of RNA-Seq to the Diagnosis of a PEX1 Deficiency

International journal of molecular sciences, 2022-10, Vol.23 (20), p.12367

2022

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Correction to: implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns

Orphanet journal of rare diseases, 2023-07, Vol.18 (1), p.188-188, Article 188

2023

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Systemic delivery of AAV-GCDH ameliorates HLD-induced phenotype in a glutaric aciduria type I mouse model

Molecular therapy. Methods & clinical development, 2024-09, Vol.32 (3), p.101276, Article 101276

2024

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Over-Mutated Mitochondrial, Lysosomal and TFEB-Regulated Genes in Parkinson's Disease

Journal of clinical medicine, 2022-03, Vol.11 (6), p.1749

2022

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Physiopathological Bases of the Disease Caused by HACE1 Mutations: Alterations in Autophagy, Mitophagy and Oxidative Stress Response

Journal of clinical medicine, 2020-03, Vol.9 (4), p.913

2020

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Retinoblastoma pathway defects show differential ability to activate the constitutive DNA damage response in human tumorigenesis

Cancer research (Chicago, Ill.), 2006-11, Vol.66 (21), p.10258-10263

2006

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Experimental Evaluation Method of Asphaltene Deposition Inhibitor’s Efficacity at Atmospheric Pressure Using a Fully Immersed Quartz Crystal Resonator, Centrifugation, and Optical Microscopy Techniques

Energy & fuels, 2023-04, Vol.37 (8), p.5895-5904

2023

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Leigh syndrome associated with TRMU gene mutations

Molecular genetics and metabolism reports, 2021-03, Vol.26, p.100690-100690, Article 100690

2021

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Physicochemical Approach to Pour Point Depressant Treatment of Waxy Crudes

Energy & fuels, 2023-05, Vol.37 (9), p.6432-6449

2023

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Molecular characterization of a new ALK translocation involving Moesin (MSN-ALK) in anaplastic large cell lymphoma

Laboratory investigation, 2001-03, Vol.81 (3), p.419-426

2001

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Heterogeneity of genomic breakpoints in MSN-ALK translocations in anaplastic large cell lymphoma

Human pathology, 2004-08, Vol.35 (8), p.1038-1041

2004

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Functional Evidence of ICCDC186/I as a New Disease-Associated Gene with Endocrine and Central Nervous System Alterations

International journal of molecular sciences, 2023-08, Vol.24 (15)

2023

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Clinical implementation of RNA sequencing for Mendelian disease diagnostics

Genome medicine, 2022-04, Vol.14 (1), p.38-38, Article 38

2022

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DNA damage response as a candidate anti-cancer barrier in early human tumorigenesis

Nature, 2005-04, Vol.434 (7035), p.864-870

2005

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A Fatal Mitochondrial Disease Is Associated with Defective NFU1 Function in the Maturation of a Subset of Mitochondrial Fe-S Proteins

American journal of human genetics, 2011-11, Vol.89 (5), p.656-667

2011

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Complex I deficiency, due to NDUFAF4 mutations, causes severe mitochondrial dysfunction and is associated to early death and dysmorphia

Mitochondrion, 2020-11, Vol.55, p.78-84

2020

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HACE1 builds molecular crosstalks between rare diseases and (more) common disorders

Lipoic acid biosynthesis defects

Evaluation of the Influence of a Chemical Inhibitor on Asphaltene Destabilization and Deposition Mechanisms under Atmospheric and Oil Production Conditions Using QCM and AFM Techniques

Differential diagnosis of lipoic acid synthesis defects

Functional Evidence of CCDC186 as a New Disease-Associated Gene with Endocrine and Central Nervous System Alterations

Implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns

Lysine Restriction and Pyridoxal Phosphate Administration in a NADK2 Patient

Diagnostic Odyssey in an Adult Patient with Ophthalmologic Abnormalities and Hearing Loss: Contribution of RNA-Seq to the Diagnosis of a PEX1 Deficiency

Correction to: implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns

Systemic delivery of AAV-GCDH ameliorates HLD-induced phenotype in a glutaric aciduria type I mouse model

Over-Mutated Mitochondrial, Lysosomal and TFEB-Regulated Genes in Parkinson's Disease

Physiopathological Bases of the Disease Caused by HACE1 Mutations: Alterations in Autophagy, Mitophagy and Oxidative Stress Response

Retinoblastoma pathway defects show differential ability to activate the constitutive DNA damage response in human tumorigenesis

Experimental Evaluation Method of Asphaltene Deposition Inhibitor’s Efficacity at Atmospheric Pressure Using a Fully Immersed Quartz Crystal Resonator, Centrifugation, and Optical Microscopy Techniques

Leigh syndrome associated with TRMU gene mutations

Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease

Physicochemical Approach to Pour Point Depressant Treatment of Waxy Crudes

Molecular characterization of a new ALK translocation involving Moesin (MSN-ALK) in anaplastic large cell lymphoma

Heterogeneity of genomic breakpoints in MSN-ALK translocations in anaplastic large cell lymphoma

Functional Evidence of ICCDC186/I as a New Disease-Associated Gene with Endocrine and Central Nervous System Alterations

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

DNA damage response as a candidate anti-cancer barrier in early human tumorigenesis

A Fatal Mitochondrial Disease Is Associated with Defective NFU1 Function in the Maturation of a Subset of Mitochondrial Fe-S Proteins

Oncogene-induced senescence is part of the tumorigenesis barrier imposed by DNA damage checkpoints

Complex I deficiency, due to NDUFAF4 mutations, causes severe mitochondrial dysfunction and is associated to early death and dysmorphia

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