Sara E Mole Selected Research

Neuronal Ceroid-Lipofuscinoses (Neuronal Ceroid Lipofuscinosis)

1/2022	Aberrant upregulation of the glycolytic enzyme PFKFB3 in CLN7 neuronal ceroid lipofuscinosis.
10/2021	Repurposing of tamoxifen ameliorates CLN3 and CLN7 disease phenotype.
1/2021	Revealing the clinical phenotype of atypical neuronal ceroid lipofuscinosis type 2 disease: Insights from the largest cohort in the world.
1/2021	Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients.
1/2020	Gene Therapy Targeting the Inner Retina Rescues the Retinal Phenotype in a Mouse Model of CLN3 Batten Disease.
1/2020	Moving towards a new era of genomics in the neuronal ceroid lipofuscinoses.
11/2019	Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease.
1/2019	Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features.
1/2019	Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis.
1/2018	Loss of CLN7 results in depletion of soluble lysosomal proteins and impaired mTOR reactivation.

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Sara E Mole Research Topics

Disease

25	Neuronal Ceroid-Lipofuscinoses (Neuronal Ceroid Lipofuscinosis) 01/2022 - 02/2002
7	Lysosomal Storage Diseases (Lysosomal Storage Disease) 01/2022 - 08/2004
7	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2020 - 02/2002
2	Seizures (Absence Seizure) 01/2021 - 01/2020
2	neuronal 5 Ceroid lipofuscinosis 05/2011 - 02/2002
2	Disease Progression 01/2011 - 01/2009
1	Neuroinflammatory Diseases 10/2021
1	Epilepsy (Aura) 01/2021
1	Ganglion Cysts (Ganglion) 01/2020
1	Starvation 01/2018
1	Huntington Disease (Huntington's Disease) 08/2016
1	Niemann-Pick Diseases (Niemann Pick Disease) 08/2016
1	Alzheimer Disease (Alzheimer's Disease) 08/2016
1	Prion Diseases (Transmissible Spongiform Encephalopathies) 08/2016
1	Ataxia (Dyssynergia) 11/2014
1	Gliosis 03/2006

Drug/Important Bio-Agent (IBA)

10	Proteins (Proteins, Gene)FDA Link 01/2020 - 02/2002
6	EnzymesIBA 01/2022 - 01/2016
5	lipopigmentsIBA 01/2017 - 02/2002
4	Tripeptidyl-Peptidase 1IBA 01/2021 - 01/2016
4	CeroidIBA 01/2020 - 01/2008
4	Amino Acids FDA Link 01/2019 - 02/2002
3	LipofuscinIBA 01/2020 - 03/2006
2	lysosomal proteinsIBA 01/2018 - 09/2006
2	Membrane Proteins (Integral Membrane Proteins)IBA 02/2010 - 01/2007
1	Pharmaceutical PreparationsIBA 10/2021
1	Tamoxifen FDA LinkGeneric 10/2021
1	Retinaldehyde (Retinal)IBA 01/2020
1	TOR Serine-Threonine KinasesIBA 01/2018
1	Lysosomal Membrane ProteinsIBA 01/2018
1	IronIBA 08/2016
1	Cathepsin DIBA 11/2014
1	Cathepsin FIBA 04/2013
1	cysteine string proteinIBA 08/2011
1	Biomarkers (Surrogate Marker)IBA 01/2011
1	Mutant Proteins (Protein, Mutant)IBA 01/2009
1	ChloridesIBA 09/2006
1	Carrier Proteins (Binding Protein)IBA 09/2006
1	4-O-carboxymethylascochlorinIBA 03/2006
1	Indicators and Reagents (Reagents)IBA 03/2006

Therapy/Procedure

1	Terminal Care (Care, Terminal) 01/2021
1	Pain Management 01/2021
1	Therapeutics 01/2019