Justine Rousseau Selected Research

COOH-terminal signal transamidase

1/2020	Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy.
10/2018	Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy.
11/2017	Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.

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Justine Rousseau Research Topics

Disease

5	Epilepsy (Aura) 01/2021 - 11/2017
4	Intellectual Disability (Idiocy) 01/2021 - 01/2017
3	Neurodevelopmental Disorders 01/2021 - 11/2018
3	Atrophy 01/2020 - 11/2017
2	Autistic Disorder (Autism) 01/2021 - 01/2019
2	Muscle Hypotonia (Hypotonia) 01/2020 - 10/2018
2	Brain Diseases (Brain Disorder) 01/2019 - 10/2018
1	Genetic Translocation (Chromosomal Translocation) 01/2022
1	Carcinogenesis 01/2022
1	Hypothyroidism 01/2021
1	Autism Spectrum Disorder 01/2021
1	HEM dysplasia 12/2020
1	Pelger-Huet Anomaly 12/2020
1	Neoplasms (Cancer) 01/2020
1	Inborn Genetic Diseases (Disease, Hereditary) 01/2020
1	Hyperlactatemia 01/2019
1	Rothmund-Thomson Syndrome (Syndrome, Rothmund-Thomson) 01/2019
1	Hyperammonemia 01/2019
1	Seizures (Absence Seizure) 10/2018
1	Ataxia (Dyssynergia) 10/2018
1	Strudwick syndrome 11/2017
1	Metabolic Bone Diseases (Osteopenia) 11/2017

Drug/Important Bio-Agent (IBA)

4	Proteins (Proteins, Gene)FDA Link 01/2022 - 11/2017
3	COOH-terminal signal transamidaseIBA 01/2020 - 11/2017
3	Histones (Histone)IBA 01/2020 - 01/2017
2	Lysine AcetyltransferasesIBA 01/2020 - 01/2020
2	Pyridoxine (Pyridoxin)FDA LinkGeneric 01/2019 - 10/2018
1	Co-Repressor ProteinsIBA 01/2021
1	Sin3 Histone Deacetylase and Corepressor ComplexIBA 01/2021
1	Lamin B ReceptorIBA 12/2020
1	Valproic Acid (Depakote)FDA LinkGeneric 01/2020
1	Aspartic Acid (Aspartate)FDA Link 01/2019
1	malic acid (malate)IBA 01/2019
1	Serine (L-Serine)FDA Link 01/2019
1	Histone Acetyltransferases (Histone Acetyltransferase)IBA 01/2019
1	Anaphase-Promoting Complex-CyclosomeIBA 01/2019
1	Anaphase-Promoting Complex-Cyclosome Apc1 SubunitIBA 01/2019
1	Adenosine Triphosphatases (ATPase)IBA 11/2018
1	Fibronectins (Fibronectin)IBA 11/2017
1	ChromatinIBA 01/2017

Therapy/Procedure

1	Therapeutics 01/2020