Results 21 to 30 of about 23,160 (290)

Batten Disease [PDF]

Journal of Child Neurology, 2013
Batten disease was the topic of the 12th Neurobiology of Disease in Children Symposium, held October 31, 2012, in Huntington Beach, California. Program co-directors Dr David Pearce and Dr Jonathan Mink prepared an engaging agenda that included individual presentations and a panel discussion from leaders in the field of neuronal ceroid lipofuscinoses.
Sarah-Bianca, Dolisca, Mitali, Mehta, David A, Pearce, Jonathan W, Mink, Bernard L, Maria   +4 more
openaire   +5 more sources

Searching for novel biomarkers using a mouse model of CLN3-Batten disease. [PDF]

PLoS ONE, 2018
CLN3-Batten disease is a rare, autosomal recessive disorder involving seizures, visual, motor and cognitive decline, and premature death. The Cln3Δex7/8 mouse model recapitulates several phenotypic characteristics of the most common 1.02kb disease ...
Derek Timm, Jacob T Cain, Ryan D Geraets, Katherine A White, Seung Yon Koh, Tammy Kielian, David A Pearce, Michelle L Hastings, Jill M Weimer   +8 more
doaj   +1 more source

Glycerophosphodiesters inhibit lysosomal phospholipid catabolism in Batten disease. [PDF]

Mol Cell
Nyame K, Hims A, Aburous A, Laqtom NN, Dong W, Medoh UN, Heiby JC, Xiong J, Ori A, Abu-Remaileh M.   +9 more
europepmc   +2 more sources

Intracranial delivery of AAV9 gene therapy partially prevents retinal degeneration and visual deficits in CLN6-Batten disease mice

Molecular Therapy: Methods & Clinical Development, 2021
Batten disease is a family of rare, fatal, neuropediatric diseases presenting with memory/learning decline, blindness, and loss of motor function. Recently, we reported the use of an AAV9-mediated gene therapy that prevents disease progression in a mouse
Katherine A. White, Hemanth R. Nelvagal, Timothy A. Poole, Bin Lu, Tyler B. Johnson, Samantha Davis, Melissa A. Pratt, Jon Brudvig, Ana B. Assis, Shibi Likhite, Kathrin Meyer, Brian K. Kaspar, Jonathan D. Cooper, Shaomei Wang, Jill M. Weimer   +14 more
doaj   +1 more source

Targeted Disruption of the Cln3 Gene Provides a Mouse Model for Batten Disease

Neurobiology of Disease, 1999
Batten disease, a degenerative neurological disorder with juvenile onset, is the most common form of the neuronal ceroid lipofuscinoses. Mutations in the CLN3 gene cause Batten disease.
Hannah M. Mitchison, David J. Bernard, Nicholas D.E. Greene, Jonathan D. Cooper, Mohammed A. Junaid, Raju K. Pullarkat, Nanneke de Vos, Martijn H. Breuning, Jennie W. Owens, William C. Mobley, R.Mark Gardiner, Brian D. Lake, Peter E.M. Taschner, Robert L. Nussbaum   +13 more
doaj   +1 more source

Acidified drinking water attenuates motor deficits and brain pathology in a mouse model of a childhood neurodegenerative disorder

Scientific Reports, 2022
We recently demonstrated that HCl-acidified drinking water, which is widely used in laboratory animal facilities, had some beneficial effects in the Cln3 −/− mouse model of juvenile Batten disease, a neurodegenerative lysosomal storage disorder1. Here we
Attila D. Kovács, Logan M. Langin, Jose L. Gonzalez Hernandez, David A. Pearce   +3 more
doaj   +1 more source

Therapeutic efficacy of antisense oligonucleotides in mouse models of CLN3 Batten disease. [PDF]

Nat Med, 2020
Centa JL, Jodelka FM, Hinrich AJ, Johnson TB, Ochaba J, Jackson M, Duelli DM, Weimer JM, Rigo F, Hastings ML.   +9 more
europepmc   +2 more sources

Genetic Characterization of the Tick-Borne Orbiviruses [PDF]

, 2015
The International Committee for Taxonomy of Viruses (ICTV) recognizes four species of tick-borne orbiviruses (TBOs): Chenuda virus, Chobar Gorge virus, Wad Medani virus and Great Island virus (genus Orbivirus, family Reoviridae).
Attoui, H, Belaganahalli, M N, Brownlie, J, Maan, N S, Maan, S, Mertens, P P C, Tesh, R   +6 more
core   +3 more sources

How genomic information is accessed in clinical practice: an electronic survey of UK general practitioners. [PDF]

, 2020
Genomic technologies are having an increasing impact across medicine, including primary care. To enable their wider adoption and realize their potential, education of primary health-care practitioners will be required.
Evans, WRH, Hayward, J, Qureshi, N, Rafi, I, Tranter, J   +4 more
core   +2 more sources

CLN7 gene therapy: hope for an ultra-rare condition

The Journal of Clinical Investigation, 2022
CLN7 Batten disease, also known as variant late infantile neuronal ceroid lipofuscinosis type 7 (vLINCL7), is an ultra-rare form of Batten disease that presents early in life with severe neurological symptoms, including visual deficits, motor problems ...
Jon J. Brudvig, Jill M. Weimer
doaj   +1 more source