Lista de obras -

A broad phenotypic screen identifies novel phenotypes driven by a single mutant allele in Huntington's disease CAG knock-in mice

artículo científico publicado en 2013

A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.

artículo científico publicado en 2012

Altered Expression of Ganglioside Metabolizing Enzymes Results in GM3 Ganglioside Accumulation in Cerebellar Cells of a Mouse Model of Juvenile Neuronal Ceroid Lipofuscinosis.

artículo científico publicado en 2018

An Autophagy Modifier Screen Identifies Small Molecules Capable of Reducing Autophagosome Accumulation in a Model of CLN3-Mediated Neurodegeneration

artículo científico publicado en 2019

An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1mutation ⬇️

artículo científico publicado el 24 de junio de 2012

Analysis of potential biomarkers and modifier genes affecting the clinical course of CLN3 disease

artículo científico publicado en 2011

Autophagy is disrupted in a knock-in mouse model of juvenile neuronal ceroid lipofuscinosis

scientific journal article

Cln3(Deltaex7/8) knock-in mice with the common JNCL mutation exhibit progressive neurologic disease that begins before birth

artículo científico publicado en 2002

Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease).

artículo científico publicado en 2016

Distinct Early Molecular Responses to Mutations Causing vLINCL and JNCL Presage ATP Synthase Subunit C Accumulation in Cerebellar Cells ⬇️

artículo científico publicado el 17 de febrero de 2011

Future perspectives: Moving towards NCL treatments

artículo científico

Genetics of the neuronal ceroid lipofuscinoses (Batten disease).

artículo científico publicado en 2015

Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway

artículo científico publicado en 2013

Individuals with progranulin haploinsufficiency exhibit features of neuronal ceroid lipofuscinosis.

artículo científico publicado en 2017

Large-scale phenotyping of an accurate genetic mouse model of JNCL identifies novel early pathology outside the central nervous system

artículo científico publicado en 2012

Lysosomal proteome analysis reveals that CLN3-defective cells have multiple enzyme deficiencies associated with changes in intracellular trafficking

scientific article published on 30 April 2019

Macroautophagy is defective in mucolipin-1-deficient mouse neurons

scientific journal article

Membrane trafficking and mitochondrial abnormalities precede subunit c deposition in a cerebellar cell model of juvenile neuronal ceroid lipofuscinosis

artículo científico publicado en 2004

Moving towards a new era of genomics in the neuronal ceroid lipofuscinoses

scientific article published on 31 October 2019

Mutations in a Novel CLN6-Encoded Transmembrane Protein Cause Variant Neuronal Ceroid Lipofuscinosis in Man and Mouse ⬇️

artículo científico publicado el 21 de diciembre de 2001

Neuronal Ceroid Lipofuscinosis: Impact of Recent Genetic Advances and Expansion of the Clinicopathologic Spectrum ⬇️

artículo científico publicado el 1 de agosto de 2013

Novel DNA Aptamers that Bind to Mutant Huntingtin and Modify Its Activity.