Results 21 to 30 of about 6,754 (244)

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

Neuronal Ceroid Lipofuscinosis Type 6 (CLN6) clinical findings and molecular diagnosis: Costa Rica’s experience

Orphanet Journal of Rare Diseases, 2022
Background Commonly known as Batten disease, the neuronal ceroid lipofuscinoses (NCLs) are a genetically heterogeneous group of rare pediatric lysosomal storage disorders characterized by the intracellular accumulation of autofluorescent material (known ...
R. Badilla-Porras, A. Echeverri-McCandless, J. M. Weimer, A. Ulate-Campos, A. Soto-Rodríguez, A. Gutiérrez-Mata, L. Hernández-Con, S. Bogantes-Ledezma, A. Balmaceda-Meza, J. Brudvig, A. Sanabria-Castro   +10 more
doaj   +1 more source

A Novel Retinal Gene Therapy Strategy for Batten Disease and Beyond

Proceedings, 2020
Batten Disease is a fatal lysosomal storage disorder characterized by cognitive and [...]
Maura Schwartz, Alex Campbell, Joseph Caporale, Megan Baird, Isabella Palazzo, Shibi Likhite, Andrew Fischer, Kathrin Meyer   +7 more
doaj   +1 more source

Rapid and Progressive Regional Brain Atrophy in CLN6 Batten Disease Affected Sheep Measured with Longitudinal Magnetic Resonance Imaging.

PLoS ONE, 2015
Variant late-infantile Batten disease is a neuronal ceroid lipofuscinosis caused by mutations in CLN6. It is a recessive genetic lysosomal storage disease characterised by progressive neurodegeneration.
Stephen J Sawiak, Sunthara Rajan Perumal, Skye R Rudiger, Loren Matthews, Nadia L Mitchell, Clive J McLaughlan, C Simon Bawden, David N Palmer, Timothy Kuchel, A Jennifer Morton   +9 more
doaj   +1 more source

Glycerophosphoinositol is Elevated in Blood Samples From pigs, Mice, and CLN3-Affected Individuals

Biomarker Insights, 2022
Introduction: CLN3 Batten disease is a rare pediatric neurodegenerative lysosomal disorder caused by biallelic disease-associated variants in CLN3. Despite decades of intense research, specific biofluid biomarkers of disease status have not been reported,
Jon J Brudvig, Vicki J Swier, Tyler B Johnson, Jacob C Cain, Melissa Pratt, Mitch Rechtzigel, Hannah Leppert, An N Dang Do, Forbes D Porter, Jill M Weimer   +9 more
doaj   +1 more source

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

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

Juvenile Batten disease

JAAPA, 2021
ABSTRACT This article describes the 6-year journey to diagnosis of twin girls with varying presentations of the same rare disease. Batten disease is a neurodegenerative disease caused by an autosomal recessive genetic mutation. In patients with juvenile Batten disease, the most common initial symptom is vision loss, and initial testing early ...
openaire   +3 more sources

Myeloid p38 activation maintains macrophage–liver crosstalk and BAT thermogenesis through IL‐12–FGF21 axis

Hepatology, EarlyView., 2022
Physiological activation of myeloid p38 controls macrophage IL‐12 production and crosstalk to the liver by modulating hepatic FGF21, and subsequently, brown adipose tissue thermogenesis during obesity Abstract Obesity features excessive fat accumulation in several body tissues and induces a state of chronic low‐grade inflammation that contributes to ...
María Crespo, Ivana Nikolic, Alfonso Mora, Elena Rodríguez, Luis Leiva‐Vega, Aránzazu Pintor‐Chocano, Daniel Horrillo, Lourdes Hernández‐Cosido, Jorge L. Torres, Eva Novoa, Rubén Nogueiras, Gema Medina‐Gómez, Miguel Marcos, Magdalena Leiva, Guadalupe Sabio   +14 more
wiley   +1 more source

Selectively increased sensitivity of cerebellar granule cells to AMPA receptor-mediated excitotoxicity in a mouse model of Batten disease

Neurobiology of Disease, 2006
Batten disease, a lysosomal storage disorder, is caused by mutations in the CLN3 gene. The Cln3-knockout (Cln3−/−) mouse model of the disease exhibits many characteristic pathological features of the human disorder.
Attila D. Kovács, Jill M. Weimer, David A. Pearce   +2 more
doaj   +1 more source

Phenotypes of Juvenile Batten Disease

Pediatric Neurology Briefs, 1999
The phenotypes of 10 Finnish juvenile neuronal ceroid lipofuscinosis (JNCL; late-onset Batten disease) patients were correlated with the genotypes in a study at Helsinki University, Finland; and the Rayne Institute, University College, London, UK.
J Gordon Millichap
doaj   +1 more source