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Marie Sissler Selected Research

Leukoencephalopathies

12/2015Neurodegenerative disease-associated mutants of a human mitochondrial aminoacyl-tRNA synthetase present individual molecular signatures.
3/2013Pathogenic mutations causing LBSL affect mitochondrial aspartyl-tRNA synthetase in diverse ways.
2/2011A human pathology-related mutation prevents import of an aminoacyl-tRNA synthetase into mitochondria.
4/2007Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation.

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Marie Sissler Research Topics

Disease

4Leukoencephalopathies
12/2015 - 04/2007
2Mitochondrial Diseases (Mitochondrial Disease)
11/2023 - 01/2019
2Neurodegenerative Diseases (Neurodegenerative Disease)
01/2018 - 12/2015
1Muscle Hypotonia (Hypotonia)
11/2023
1Atrophy
11/2023
1Intellectual Disability (Idiocy)
11/2023
1Neurodevelopmental Disorders
01/2018
1Pontocerebellar Hypoplasia Type 6
01/2018
1Hearing Loss (Hearing Impairment)
03/2015
1Nonsyndromic Deafness
03/2015
1Leigh Disease (Leigh's Disease)
03/2015
1Muscular Diseases (Myopathy)
08/2009

Drug/Important Bio-Agent (IBA)

3Lactic Acid (Lactate)FDA LinkGeneric
11/2023 - 04/2007
3EnzymesIBA
01/2019 - 02/2011
3Aspartate-tRNA LigaseIBA
12/2015 - 02/2011
2Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate ElevationIBA
01/2018 - 04/2007
1Mechanistic Target of Rapamycin Complex 1IBA
11/2023
1Ligases (Synthetase)IBA
12/2015
1Transfer RNA (tRNA)IBA
12/2015
1Amino Acyl-tRNA Synthetases (Aminoacyl-tRNA Synthetase)IBA
12/2015
1asparaginyl-tRNA synthetaseIBA
03/2015
1Proteins (Proteins, Gene)FDA Link
03/2015
1Asn Transfer RNAIBA
03/2015
1Mutant Proteins (Protein, Mutant)IBA
03/2015
1Complement System Proteins (Complement)IBA
03/2015
1Asp Transfer RNAIBA
08/2009
1NucleotidesIBA
08/2009