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Endo-lysosomal dysregulations and late-onset Alzheimer's disease: impact of genetic risk factors

Molecular neurodegeneration, 2019-06, Vol.14 (1), p.20-20, Article 20

2019

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The microglial lysosomal system in Alzheimer’s disease: Guardian against proteinopathy

Ageing research reviews, 2021-11, Vol.71, p.101444-101444, Article 101444

2021

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Phospholipase D3 degrades mitochondrial DNA to regulate nucleotide signaling and APP metabolism

Nature communications, 2023-05, Vol.14 (1), p.2847-2847

2023

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Characterisation of Gel-Forming Mucins Produced In Vivo and In Ex Vivo Conjunctival Explant Cultures

International journal of molecular sciences, 2021-10, Vol.22 (19), p.10528

2021

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Neuroglobin Expression in the Brain: a Story of Tissue Homeostasis Preservation

Molecular neurobiology, 2019-03, Vol.56 (3), p.2101-2122

2019

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Connecting the Dots in the Neuroglobin-Protein Interaction Network of an Unstressed and Ferroptotic Cell Death Neuroblastoma Model

Cells (Basel, Switzerland), 2019-08, Vol.8 (8), p.873

2019

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CD56 Homodimerization and Participation in Anti-Tumor Immune Effector Cell Functioning: A Role for Interleukin-15

Cancers, 2019-07, Vol.11 (7), p.1029

2019

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Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome

Human mutation, 2004-08, Vol.24 (2), p.140-146

2004

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Selecting Appropriate Reference Genes for Quantitative Real-Time Polymerase Chain Reaction Studies in Isolated and Cultured Ocular Surface Epithelia

Scientific reports, 2019-12, Vol.9 (1), p.19631-11, Article 19631

2019

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Non-Methylation-Linked Mechanism of REST-Induced Neuroglobin Expression Impacts Mitochondrial Phenotypes in a Mouse Model of Amyotrophic Lateral Sclerosis

Neuroscience, 2019-08, Vol.412, p.233-247

2019

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Neuroglobin Expression Models as a Tool to Study Its Function

Oxidative medicine and cellular longevity, 2019, Vol.2019, p.5728129-17

2019

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Impaired hypoxic tolerance in APP23 mice: a dysregulation of neuroprotective globin levels

FEBS letters, 2017-05, Vol.591 (10), p.1321-1332

2017

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Deficiency of the lysosomal exonuclease PLD3 impacts the degradative route

Alzheimer's & dementia, 2021-12, Vol.17 (S3), p.e050868-n/a

2021

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Contribution of Alzheimer’s disease risk genes in the maintenance of endolysosomal transport regulation

Alzheimer's & dementia, 2021-12, Vol.17, p.e053723-n/a

2021

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Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13

Journal of medical genetics, 2003-10, Vol.40 (10), p.747-751

2003

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Characterization of mutations leading to recessive dystrophic epidermolysis bullosa and Marfan syndrome in a single patient

Clinical and experimental dermatology, 2001-11, Vol.26 (8), p.710-713

2001

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High prevalence of a novel mutation in the exon 4 of the low-density lipoprotein receptor gene causing familial hypercholesterolemia in Belgium

Clinical genetics, 1997-05, Vol.51 (5), p.303-308

1997

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59. PREIMPLANTATION GENETIC TESTING FOR HERITABLE CONNECTIVE TISSUE DISEASES

Reproductive biomedicine online, 2019-08, Vol.39, p.e62-e63

2019

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Altered PLD3 exonuclease activity impacts on lysosomal and mitochondrial homeostasis

Alzheimer's & dementia, 2022-12, Vol.18 (S4), p.n/a

2022

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Low-density lipoprotein receptor gene mutations in a Southeast Asian population with familial hypercholesterolemia

Clinical genetics, 2000-08, Vol.58 (2), p.98-105

2000

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Strategies for prenatal and preimplantation genetic diagnosis in Marfan syndrome (MFS)

Prenatal diagnosis, 2002-01, Vol.22 (1), p.22-28

2002

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Über Modelle intransitiver Wahl

1979, 2021, Vol.10, Heft 1, p.45-53

2021

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Impaired hypoxic tolerance in APP 23 mice: a dysregulation of neuroprotective globin levels

FEBS letters, 2017-05, Vol.591 (10), p.1321-1332

2017

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Genetic causes of familial hypercholesterolaemia in a Malaysian population

Medical journal of Malaysia, 2000-12, Vol.55 (4), p.409-418

2000

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Endo-lysosomal dysregulations and late-onset Alzheimer's disease: impact of genetic risk factors

The microglial lysosomal system in Alzheimer’s disease: Guardian against proteinopathy

Phospholipase D3 degrades mitochondrial DNA to regulate nucleotide signaling and APP metabolism

Characterisation of Gel-Forming Mucins Produced In Vivo and In Ex Vivo Conjunctival Explant Cultures

Neuroglobin Expression in the Brain: a Story of Tissue Homeostasis Preservation

Connecting the Dots in the Neuroglobin-Protein Interaction Network of an Unstressed and Ferroptotic Cell Death Neuroblastoma Model

CD56 Homodimerization and Participation in Anti-Tumor Immune Effector Cell Functioning: A Role for Interleukin-15

Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome

Selecting Appropriate Reference Genes for Quantitative Real-Time Polymerase Chain Reaction Studies in Isolated and Cultured Ocular Surface Epithelia

Non-Methylation-Linked Mechanism of REST-Induced Neuroglobin Expression Impacts Mitochondrial Phenotypes in a Mouse Model of Amyotrophic Lateral Sclerosis

Neuroglobin Expression Models as a Tool to Study Its Function

Impaired hypoxic tolerance in APP23 mice: a dysregulation of neuroprotective globin levels

Deficiency of the lysosomal exonuclease PLD3 impacts the degradative route

Accumulation of APP C-terminal fragments causes endolysosomal dysfunction through the dysregulation of late endosome to lysosome-ER contact sites

Contribution of Alzheimer’s disease risk genes in the maintenance of endolysosomal transport regulation

Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13

Characterization of mutations leading to recessive dystrophic epidermolysis bullosa and Marfan syndrome in a single patient

High prevalence of a novel mutation in the exon 4 of the low-density lipoprotein receptor gene causing familial hypercholesterolemia in Belgium

59. PREIMPLANTATION GENETIC TESTING FOR HERITABLE CONNECTIVE TISSUE DISEASES

Altered PLD3 exonuclease activity impacts on lysosomal and mitochondrial homeostasis

Low-density lipoprotein receptor gene mutations in a Southeast Asian population with familial hypercholesterolemia

Strategies for prenatal and preimplantation genetic diagnosis in Marfan syndrome (MFS)

Über Modelle intransitiver Wahl

Impaired hypoxic tolerance in APP 23 mice: a dysregulation of neuroprotective globin levels

Genetic causes of familial hypercholesterolaemia in a Malaysian population

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