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Protein degradation pathways in Parkinson’s disease: curse or blessing

Acta neuropathologica, 2012-08, Vol.124 (2), p.153-172

2012

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Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism

Brain (London, England : 1878), 2016-02, Vol.139 (Pt 2), p.317-337

2016

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Reduction of TMEM97 increases NPC1 protein levels and restores cholesterol trafficking in Niemann-pick type C1 disease cells

Human molecular genetics, 2016-08, Vol.25 (16), p.3588-3599

2016

Volltextzugriff (PDF)

Impaired Mitochondrial Dynamics and Mitophagy in Neuronal Models of Tuberous Sclerosis Complex

Cell reports (Cambridge), 2016-10, Vol.17 (4), p.1053-1070

2016

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Editorial: Advances in predisposition to bone marrow failure and hematopoietic neoplasms

Frontiers in oncology, 2024, Vol.14, p.1377974-1377974

2024

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Drug discovery for Diamond-Blackfan anemia using reprogrammed hematopoietic progenitors

Science translational medicine, 2017-02, Vol.9 (376)

2017

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High-content screening identifies a small molecule that restores AP-4-dependent protein trafficking in neuronal models of AP-4-associated hereditary spastic paraplegia

Nature communications, 2024-01, Vol.15 (1), p.584-22, Article 584

2024

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Emerging role of autophagy in pediatric neurodegenerative and neurometabolic diseases

Pediatric research, 2014-01, Vol.75 (1-2), p.217-226

2014

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A CLK3-HMGA2 Alternative Splicing Axis Impacts Human Hematopoietic Stem Cell Molecular Identity throughout Development

Cell stem cell, 2018-04, Vol.22 (4), p.575-588.e7

2018

Volltextzugriff (PDF)

Molecular chaperones and protein folding as therapeutic targets in Parkinson's disease and other synucleinopathies

Acta neuropathologica communications, 2013-12, Vol.1 (1), p.79-79, Article 79

2013

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Progress towards generation of human haematopoietic stem cells

Nature cell biology, 2016-11, Vol.18 (11), p.1111

2016

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Drug discovery using induced pluripotent stem cells identifies autophagy as a therapeutic pathway for anemia

Experimental hematology, 2016-09, Vol.44 (9), p.S48-S48

2016

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I SPI1 something needed for B cells

The Journal of experimental medicine, 2021-07, Vol.218 (7)

2021

Volltextzugriff (PDF)

Using tuberous sclerosis complex to understand the impact of MTORC1 signaling on mitochondrial dynamics and mitophagy in neurons

Autophagy, 2017-04, Vol.13 (4), p.754-756

2017

Volltextzugriff (PDF)

COVID‐19 presenting with autoimmune hemolytic anemia in the setting of underlying immune dysregulation

Pediatric blood & cancer, 2020-09, Vol.67 (9), p.e28382-n/a

2020

Volltextzugriff (PDF)

Massively parallel base editing to map variant effects in human hematopoiesis

Cell, 2023-05, Vol.186 (11), p.2456-2474.e24

2023

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A Genetic Disorder Reveals a Hematopoietic Stem Cell Regulatory Network Co-Opted in Leukemia

Blood, 2021-11, Vol.138 (Supplement 1), p.861-861

2021

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A genetic disorder reveals a hematopoietic stem cell regulatory network co-opted in leukemia

Nature immunology, 2023-01, Vol.24 (1), p.69

2023

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Racial and Ethnic Disparities in Childhood Acute Lymphoblastic Leukemia Risk Due to an IKZF1 Noncoding Regulatory Variant

Blood, 2022-11, Vol.140 (Supplement 1), p.8880-8881

2022

Volltextzugriff (PDF)

Presenilin-1 adopts pathogenic conformation in normal aging and in sporadic Alzheimer’s disease

Acta neuropathologica, 2013-02, Vol.125 (2), p.187-199

2013

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Deciphering cell states and genealogies of human haematopoiesis

Nature (London), 2024-03, Vol.627 (8003), p.389-398

2024

Volltextzugriff (PDF)

Restoring impaired protein metabolism in Parkinson's disease - TFEB-mediated autophagy as a novel therapeutic target

Movement disorders, 2013-09, Vol.28 (10), p.1346-1346

2013

Volltextzugriff (PDF)

Familial thrombocytopenia due to a complex structural variant resulting in a WAC-ANKRD26 fusion transcript

The Journal of experimental medicine, 2021-06, Vol.218 (6)

2021

Volltextzugriff (PDF)

Parkinson's disease: A disorder of axonal mitophagy?

Movement disorders, 2014-11, Vol.29 (13), p.1582-1582

2014

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Modeling Parkinson's disease in a dish - A story of yeast and men

Movement disorders, 2014-01, Vol.29 (1), p.34-34

2014

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Protein degradation pathways in Parkinson’s disease: curse or blessing

Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism

Reduction of TMEM97 increases NPC1 protein levels and restores cholesterol trafficking in Niemann-pick type C1 disease cells

Impaired Mitochondrial Dynamics and Mitophagy in Neuronal Models of Tuberous Sclerosis Complex

Editorial: Advances in predisposition to bone marrow failure and hematopoietic neoplasms

Drug discovery for Diamond-Blackfan anemia using reprogrammed hematopoietic progenitors

High-content screening identifies a small molecule that restores AP-4-dependent protein trafficking in neuronal models of AP-4-associated hereditary spastic paraplegia

Emerging role of autophagy in pediatric neurodegenerative and neurometabolic diseases

A CLK3-HMGA2 Alternative Splicing Axis Impacts Human Hematopoietic Stem Cell Molecular Identity throughout Development

Molecular chaperones and protein folding as therapeutic targets in Parkinson's disease and other synucleinopathies

Progress towards generation of human haematopoietic stem cells

Drug discovery using induced pluripotent stem cells identifies autophagy as a therapeutic pathway for anemia

I SPI1 something needed for B cells

Using tuberous sclerosis complex to understand the impact of MTORC1 signaling on mitochondrial dynamics and mitophagy in neurons

COVID‐19 presenting with autoimmune hemolytic anemia in the setting of underlying immune dysregulation

Massively parallel base editing to map variant effects in human hematopoiesis

A Genetic Disorder Reveals a Hematopoietic Stem Cell Regulatory Network Co-Opted in Leukemia

A genetic disorder reveals a hematopoietic stem cell regulatory network co-opted in leukemia

Racial and Ethnic Disparities in Childhood Acute Lymphoblastic Leukemia Risk Due to an IKZF1 Noncoding Regulatory Variant

Presenilin-1 adopts pathogenic conformation in normal aging and in sporadic Alzheimer’s disease

Deciphering cell states and genealogies of human haematopoiesis

Restoring impaired protein metabolism in Parkinson's disease - TFEB-mediated autophagy as a novel therapeutic target

Familial thrombocytopenia due to a complex structural variant resulting in a WAC-ANKRD26 fusion transcript

Parkinson's disease: A disorder of axonal mitophagy?

Modeling Parkinson's disease in a dish - A story of yeast and men

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