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Jennifer Hirst Selected Research

Adaptor Protein Complex 4

10/2020Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.
1/2020Loss of ap4s1 in zebrafish leads to neurodevelopmental defects resembling spastic paraplegia 52.
1/2020Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking.
4/2015Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly.

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Jennifer Hirst Research Topics

Disease

4Hereditary Spastic Paraplegia
01/2021 - 08/2013
3Paraplegia (Spastic Paraplegia)
09/2015 - 02/2013
2Type 2 Diabetes Mellitus (MODY)
01/2022 - 02/2014
1Polymicrogyria
10/2020
1recessive Spastic paraplegia type 5A
01/2020
1Cardiovascular Diseases (Cardiovascular Disease)
12/2015
1Cognitive Dysfunction
09/2015
1Parkinsonian Disorders (Parkinsonism)
09/2015
1Seizures (Absence Seizure)
04/2015
1Type 1 Diabetes Mellitus (Autoimmune Diabetes)
02/2014
1Lymphadenitis (Adenitis)
01/2013
1Inborn Genetic Diseases (Disease, Hereditary)
09/2012
1Cerebral Palsy (Spastic Diplegia)
07/2009
1Quadriplegia (Spastic Quadriplegia)
07/2009

Drug/Important Bio-Agent (IBA)

5Proteins (Proteins, Gene)FDA Link
01/2021 - 09/2012
4Adaptor Protein Complex 4IBA
10/2020 - 04/2015
1Glucose (Dextrose)FDA LinkGeneric
01/2022
1IronIBA
10/2020
1LipidsIBA
12/2015
1Nonsense Codon (Nonsense Mutation)IBA
09/2015
1AlbuminsIBA
02/2014
1CreatinineIBA
02/2014
1AngiotensinsIBA
02/2014
1Angiotensin-Converting Enzyme Inhibitors (ACE Inhibitors)IBA
02/2014
1BCG VaccineFDA Link
01/2013
1Membrane Proteins (Integral Membrane Proteins)IBA
09/2012
1Transcription Factor AP-1 (Transcription Factor AP 1)IBA
09/2012
1Glutamate Receptors (Glutamate Receptor)IBA
07/2009