Martin L Katz Selected Research

Neuronal Ceroid-Lipofuscinoses (Neuronal Ceroid Lipofuscinosis)

7/2022	Lysosomal storage disease associated with a CNP sequence variant in Dalmatian dogs.
1/2021	Dose selection for intracerebroventricular cerliponase alfa in children with CLN2 disease, translation from animal to human in a rare genetic disease.
1/2020	Intravitreal enzyme replacement inhibits progression of retinal degeneration in canine CLN2 neuronal ceroid lipofuscinosis.
1/2020	Intravitreal enzyme replacement preserves retinal structure and function in canine CLN2 neuronal ceroid lipofuscinosis.
1/2020	Neuronal Ceroid Lipofuscinosis in a Domestic Cat Associated with a DNA Sequence Variant That Creates a Premature Stop Codon in CLN6.
12/2019	Neurofilament light is a treatment-responsive biomarker in CLN2 disease.
1/2019	A mixed breed dog with neuronal ceroid lipofuscinosis is homozygous for a CLN5 nonsense mutation previously identified in Border Collies and Australian Cattle Dogs.
11/2015	AAV gene transfer delays disease onset in a TPP1-deficient canine model of the late infantile form of Batten disease.
2/2015	Nonclinical evaluation of CNS-administered TPP1 enzyme replacement in canine CLN2 neuronal ceroid lipofuscinosis.
1/2015	A rare homozygous MFSD8 single-base-pair deletion and frameshift in the whole genome sequence of a Chinese Crested dog with neuronal ceroid lipofuscinosis.

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Martin L Katz Research Topics

Disease

19	Neuronal Ceroid-Lipofuscinoses (Neuronal Ceroid Lipofuscinosis) 07/2022 - 01/2005
9	Retinal Degeneration 01/2021 - 07/2004
8	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2021 - 01/2005
6	Disease Progression 12/2019 - 04/2006
4	Lysosomal Storage Diseases (Lysosomal Storage Disease) 07/2022 - 02/2006
4	Atrophy 01/2021 - 05/2009
2	Retinal Detachment (Retinal Detachments) 01/2021 - 05/2015
2	Vision Disorders (Hemeralopia) 01/2021 - 01/2020
2	Blindness (Hysterical Blindness) 01/2020 - 01/2020
2	Spinal Cord Diseases 05/2016 - 07/2012
2	Muscular Atrophy (Muscle Atrophy) 12/2013 - 07/2012
2	Macular Degeneration (Age-Related Maculopathy) 05/2009 - 05/2002
1	Inborn Genetic Diseases (Disease, Hereditary) 01/2021
1	Seizures (Absence Seizure) 01/2020
1	Myoclonus (Nocturnal Myoclonus) 01/2020
1	Osteosarcoma (Osteogenic Sarcoma) 08/2016
1	Polyneuropathies (Polyneuropathy) 02/2016
1	GM2 Gangliosidoses (GM2 Gangliosidosis) 01/2013
1	Peripheral Nervous System Diseases (PNS Diseases) 07/2012
1	Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease) 07/2012
1	Demyelinating Diseases (Demyelinating Disease) 07/2012
1	Paralysis (Palsy) 07/2012
1	Retinitis Pigmentosa (Pigmentary Retinopathy) 05/2009
1	Epiretinal Membrane (Epiretinal Membranes) 05/2009
1	Stargardt Disease 05/2009
1	Ganglion Cysts (Ganglion) 01/2005
1	Dog Diseases (Disease, Canine) 01/2005
1	Diabetic Retinopathy (Retinopathy, Diabetic) 12/2002
1	Diabetes Mellitus 12/2002
1	Microaneurysm 12/2002
1	Dyslipidemias (Dyslipidemia) 12/2002
1	Late Onset Disorders 06/2002

Drug/Important Bio-Agent (IBA)

12	Retinaldehyde (Retinal)IBA 01/2021 - 12/2002
9	EnzymesIBA 01/2021 - 08/2014
4	Proteins (Proteins, Gene)FDA Link 07/2022 - 05/2002
4	Tripeptidyl-Peptidase 1IBA 12/2019 - 11/2011
3	Nonsense Codon (Nonsense Mutation)IBA 01/2020 - 08/2014
3	DNA (Deoxyribonucleic Acid)IBA 02/2016 - 04/2006
1	AntibodiesIBA 07/2022
1	mitochondrial ATPase subunit cIBA 07/2022
1	cerliponase alfaIBA 01/2021
1	A-Form DNA (A-DNA)IBA 01/2020
1	Phenobarbital (Luminal)FDA Link 01/2020
1	Biomarkers (Surrogate Marker)IBA 12/2019
1	Recombinant ProteinsIBA 01/2016
1	Cholinergic ReceptorsIBA 12/2013
1	GangliosidesIBA 01/2013
1	Hexosaminidases (Hexosaminidase)IBA 01/2013
1	Superoxide Dismutase-1IBA 07/2012
1	Superoxide DismutaseIBA 07/2012
1	Fluorescein (Funduscein)FDA LinkGeneric 05/2009
1	Cathepsin DIBA 04/2006
1	Green Fluorescent ProteinsIBA 05/2005
1	lipopigmentsIBA 01/2005
1	CeroidIBA 01/2005
1	enhanced green fluorescent proteinIBA 07/2004
1	Carnitine (L-Carnitine)FDA LinkGeneric 06/2002
1	LipofuscinIBA 05/2002
1	Retinal Pigments (Pigments, Visual)IBA 05/2002

Therapy/Procedure

2	Therapeutics 07/2017 - 05/2005
2	Enzyme Replacement Therapy 11/2014 - 08/2014
2	Denervation 12/2013 - 07/2012
1	Intravitreal Injections 01/2020
1	Immunotherapy 08/2016
1	Euthanasia (Mercy Killing) 07/2012
1	Transplantation 07/2004