Lista de obras - Sara E. Mole - Dominio Público Uruguay

A 30-year follow-up of a neuronal ceroid lipofuscinosis patient with mutations in CLN3 and protracted disease course

artículo científico publicado en 2009

A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset.

artículo científico publicado en 2005

A central role for TOR signalling in a yeast model for juvenile CLN3 disease

artículo científico publicado en 2015

A function retained by the common mutant CLN3 protein is responsible for the late onset of juvenile neuronal ceroid lipofuscinosis.

artículo científico publicado en 2007

A model for Batten disease protein CLN3: functional implications from homology and mutations

artículo científico publicado en 1996

A multiple interval physical map of the pericentromeric region of human chromosome 10

artículo científico publicado en 1994

Adult neuronal ceroid lipofuscinosis caused by deficiency in palmitoyl protein thioesterase 1.

artículo científico publicado en 2007

Analysis of Batten disease candidate genesSTP andSTM

article

Analysis of CLN3-protein interactions using the yeast two-hybrid system.

artículo científico publicado en 2001

Analysis of candidate genes in the CLN6 critical regionusing in silico cloning

article

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

artículo científico publicado en 2011

Assignment of Fifty-Four Cosmid Clones to Five Regions of Chromosome 10

artículo científico publicado en 1993

Assignment of the human pulmonary surfactant protein D gene (SFTP4) to 10q22-q23 close to the surfactant protein A gene cluster

artículo científico publicado en 1993

Batten disease gene, CLN3: linkage disequilibrium mapping in the Finnish population, and analysis of European haplotypes

artículo científico publicado en 1995

Batten's disease: eight genes and still counting?

artículo científico publicado en 1999

Btn1 affects cytokinesis and cell-wall deposition by independent mechanisms, one of which is linked to dysregulation of vacuole pH.

artículo científico publicado en 2008

CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL

article

CLN6 disease caused by the same mutation originating in Pakistan has varying pathology

artículo científico publicado en 2013

CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein

artículo científico publicado en 2004

CLN8 disease caused by large genomic deletions

artículo científico publicado en 2016

Cathepsin D deficiency causes juvenile-onset ataxia and distinctive muscle pathology

artículo científico publicado en 2014

Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis

artículo científico publicado en 2013

Cellular targets for SV40 large T-antigen.

artículo científico publicado en 1985

Characterizing pathogenic processes in Batten disease: use of small eukaryotic model systems

artículo científico publicado en 2006

Chromosome 16 microdeletion in a patient with juvenile neuronal ceroid lipofuscinosis (Batten disease)

artículo científico publicado en 1995

Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis

artículo científico publicado en 2019

Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses

artículo científico publicado en 2005

Delayed classic and protracted phenotypes of compound heterozygous juvenile neuronal ceroid lipofuscinosis

artículo científico publicado en 1999

Deletion of btn1, an orthologue of CLN3, increases glycolysis and perturbs amino acid metabolism in the fission yeast model of Batten disease

artículo científico publicado en 2010

Development of new treatments for Batten disease

article

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

artículo científico publicado en 2016

Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis

artículo científico publicado en 2016

Dinucleotide repeat polymorphisms at the D10S183 and D10S245 loci

artículo científico publicado en 1992

Elucidation of the exon-intron structure and size of the human protein kinase C beta gene (PRKCB).

artículo científico publicado en 1998

Epitope Mapping

artículo científico publicado el 1 de enero de 1992

Epitope mapping

scientific article published on 01 June 1994

Epitope mapping of antibodies recognising the N-terminal domain of simian virus large tumour antigen.

artículo científico publicado en 1998

Full-field ERG in patients with Batten/Spielmeyer-Vogt disease caused by mutations in the CLN3 gene

scientific article published on 01 June 2000

Future perspectives: Moving towards NCL treatments

artículo científico

Gene Therapy Approaches to Treat the Neurodegeneration and Visual Failure in Neuronal Ceroid Lipofuscinoses

artículo científico publicado en 2018

Gene table: Neuronal ceroid lipofuscinoses

article

Gene table: neuronal ceroid lipofuscinoses (NCL)

artículo científico publicado en 1997

Genetic basis and phenotypic correlations of the neuronal ceroid lipofusinoses.

artículo científico publicado en 2013

Genetic linkage studies map the multiple endocrine neoplasia type 2 loci to a small interval on chromosome 10q11.2

artículo científico publicado en 1993

Genetics of the neuronal ceroid lipofuscinoses (Batten disease).

artículo científico publicado en 2015

Genomic structure and complete nucleotide sequence of the Batten disease gene, CLN3

artículo científico publicado en 1997

Genomic structure of three CLN3-like genes in Caenorhabditis elegans

article

Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A.

artículo científico publicado en 1993

Global network analysis in Schizosaccharomyces pombe reveals three distinct consequences of the common 1-kb deletion causing juvenile CLN3 disease

artículo científico publicado en 2021

Guidelines for incorporating scientific knowledge and practice on rare diseases into higher education: neuronal ceroid lipofuscinoses as a model disorder

artículo científico publicado en 2015

Homogeneous PCR nucleobase quenching assays to detect four mutations that cause neuronal ceroid lipofuscinosis: T75P and R151X in CLN1, and IVS5-1G>C and R208X in CLN2

scientific article published on 23 May 2006

Host proteins that bind to or mimic SV40 large T antigen: using antibodies to look at protein interactions and their significance.

artículo científico publicado en 1989

Human papillomavirus type 16 E2 protein transcriptionally activates the promoter of a key cellular splicing factor, SF2/ASF.

artículo científico publicado en 2008

Identification and characterization of Caenorhabditis elegans palmitoyl protein thioesterase1.

artículo científico publicado en 2005

Identification of a transactivation motif in the CLN3 protein.

artículo científico publicado en 2001

Involvement of the mitochondrial compartment in human NCL fibroblasts

artículo científico publicado en 2011

Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features

artículo científico publicado en 2019

Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6

artículo científico publicado en 2011

Localisation of the gene for multiple endocrine neoplasia type 2A to a 480 kb region in chromosome band 10q11.2.

artículo científico publicado en 1993

Loss of CLN7 results in depletion of soluble lysosomal proteins and impaired mTOR reactivation

artículo científico publicado en 2018

Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6.

artículo científico publicado en 2006

Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5

artículo científico publicado en 1999

Molecular genetic analysis of neuronal ceroid lipofuscinosis.

artículo científico publicado en 1991

Molecular genetics of the NCLs -- status and perspectives

artículo científico publicado en 2006

Murine cathepsin F deficiency causes neuronal lipofuscinosis and late-onset neurological disease

artículo científico publicado en 2006

Mutation of TBCK causes a rare recessive developmental disorder

artículo científico publicado en 2016

Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis

artículo científico publicado en 2012

Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease

scientific article published on 26 July 2019

Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis

artículo científico publicado en 2009

Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis.

artículo científico publicado en 2011

Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis

artículo científico publicado en 2011

Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis.

artículo científico publicado en 2009

Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits [published erratum appears in Hum Mol Genet 1998 Apr;7(4):765]

artículo científico publicado en 1998

NCLs and ER: A stressful relationship.

artículo científico publicado en 2017

Neurodegenerative disease: the neuronal ceroid lipofuscinoses (Batten disease).

artículo científico publicado en 2001

Neuronal ceroid lipofuscinoses

artículo científico publicado en 2001

Neuronal ceroid lipofuscinoses (NCL)

scientific article published on 01 September 2006

Neuronal ceroid lipofuscinoses (NCL)

artículo científico publicado en 2004

Neuronal ceroid lipofuscinoses (NCL)

Neuronal ceroid lipofuscinosis in Qatar: report of a novel mutation in ceroid-lipofuscinosis, neuronal 5 in the Arab population

artículo científico publicado en 2011

New mutations in the neuronal ceroid lipofuscinosis genes.

artículo científico publicado en 2001

New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses

artículo científico publicado en 2012

Novel CLN3 mutation causing autophagic vacuolar myopathy

artículo científico publicado en 2014

Pathogenic mutations cause rapid degradation of lysosomal storage disease-related membrane protein CLN6.

artículo científico publicado en 2010

Physical map of the region containing the gene for Batten disease (CLN3)

article

Pirkko Santavuori (1933-2004).

artículo científico publicado en 2004

Prenatal Diagnosis of Disorders of Lipid Metabolism

Prenatal diagnosis of Batten's disease

artículo científico publicado en 1996

Prevention of Photoreceptor Cell Loss in a Cln6 Mouse Model of Batten Disease Requires CLN6 Gene Transfer to Bipolar Cells

article

Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship

artículo científico publicado en 2009

S. pombe btn1, the orthologue of the Batten disease gene CLN3, is required for vacuole protein sorting of Cpy1p and Golgi exit of Vps10p

artículo científico publicado en 2009

Sharing of PPT mutations between distinct clinical forms of neuronal ceroid lipofuscinoses in patients from Scotland.

artículo científico publicado en 1998

Special issue: Molecular basis of NCL

scientific article published on 27 June 2015

Special issue: molecular basis of the NCLs

artículo científico publicado en 2013

Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis

artículo científico publicado en 2003

Spectrum of mutations in the Batten disease gene, CLN3

artículo científico publicado en 1997

Strategy for mutation detection in CLN3: characterisation of two Finnish mutations

artículo científico publicado en 1997

Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage

artículo científico publicado en 2012

Structure and function of SV40 large-T antigen.

artículo científico publicado en 1987

Structure of the CLN3 gene and predicted structure, location and function of CLN3 protein.

artículo científico publicado en 1997

The Chihuahua dog: A new animal model for neuronal ceroid lipofuscinosis CLN7 disease?

artículo científico publicado en 2016

The fission yeast model for the lysosomal storage disorder Batten disease predicts disease severity caused by mutations in CLN3.

artículo científico publicado en 2008

The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein

artículo científico publicado en 2002

The genetic spectrum of human neuronal ceroid-lipofuscinoses

artículo científico publicado en 2004

The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8

artículo científico publicado en 1999

The transmembrane topology of Batten disease protein CLN3 determined by consensus computational prediction constrained by experimental data

artículo científico publicado en 2008

The value of a comprehensive natural history in late infantile CLN5 disease

artículo científico publicado en 2017

Therapeutic approaches to the challenge of neuronal ceroid lipofuscinoses.

artículo científico publicado en 2011

Topology and endoplasmic reticulum retention signals of the lysosomal storage disease-related membrane protein CLN6.

artículo científico publicado en 2007

Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses

artículo científico publicado en 2011

Use of simian virus 40 large T-beta-galactosidase fusion proteins in an immunochemical analysis of simian virus 40 large T antigen.

artículo científico publicado en 1985

Using the polymerase chain reaction to modify expression plasmids for epitope mapping.

artículo científico publicado en 1989

Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6

artículo científico publicado en 2009

Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy

artículo científico publicado en 2004

Workshop on the genetic and molecular basis of the neuronal ceroid lipofuscinoses London, UK, 13–16 November 1997

artículo científico publicado en 1998

btn1 affects endocytosis, polarization of sterol-rich membrane domains and polarized growth in Schizosaccharomyces pombe

artículo científico publicado en 2008

btn1, the Schizosaccharomyces pombe homologue of the human Batten disease gene CLN3, regulates vacuole homeostasis.

artículo científico publicado en 2005

Lista de obras de Sara E. Mole

A 30-year follow-up of a neuronal ceroid lipofuscinosis patient with mutations in CLN3 and protracted disease course

A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset.

A central role for TOR signalling in a yeast model for juvenile CLN3 disease

A function retained by the common mutant CLN3 protein is responsible for the late onset of juvenile neuronal ceroid lipofuscinosis.

A model for Batten disease protein CLN3: functional implications from homology and mutations

A multiple interval physical map of the pericentromeric region of human chromosome 10

Adult neuronal ceroid lipofuscinosis caused by deficiency in palmitoyl protein thioesterase 1.

Analysis of Batten disease candidate genesSTP andSTM

Analysis of CLN3-protein interactions using the yeast two-hybrid system.

Analysis of candidate genes in the CLN6 critical regionusing in silico cloning

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

Assignment of Fifty-Four Cosmid Clones to Five Regions of Chromosome 10

Assignment of the human pulmonary surfactant protein D gene (SFTP4) to 10q22-q23 close to the surfactant protein A gene cluster

Batten disease gene, CLN3: linkage disequilibrium mapping in the Finnish population, and analysis of European haplotypes

Batten's disease: eight genes and still counting?

Btn1 affects cytokinesis and cell-wall deposition by independent mechanisms, one of which is linked to dysregulation of vacuole pH.

CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL

CLN6 disease caused by the same mutation originating in Pakistan has varying pathology

CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein

CLN8 disease caused by large genomic deletions

Cathepsin D deficiency causes juvenile-onset ataxia and distinctive muscle pathology

Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis

Cellular targets for SV40 large T-antigen.

Characterizing pathogenic processes in Batten disease: use of small eukaryotic model systems

Chromosome 16 microdeletion in a patient with juvenile neuronal ceroid lipofuscinosis (Batten disease)

Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis

Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses

Delayed classic and protracted phenotypes of compound heterozygous juvenile neuronal ceroid lipofuscinosis

Deletion of btn1, an orthologue of CLN3, increases glycolysis and perturbs amino acid metabolism in the fission yeast model of Batten disease

Development of new treatments for Batten disease

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

Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis

Dinucleotide repeat polymorphisms at the D10S183 and D10S245 loci

Elucidation of the exon-intron structure and size of the human protein kinase C beta gene (PRKCB).

Epitope Mapping

Epitope mapping

Epitope mapping of antibodies recognising the N-terminal domain of simian virus large tumour antigen.

Full-field ERG in patients with Batten/Spielmeyer-Vogt disease caused by mutations in the CLN3 gene

Future perspectives: Moving towards NCL treatments

Gene Therapy Approaches to Treat the Neurodegeneration and Visual Failure in Neuronal Ceroid Lipofuscinoses

Gene table: Neuronal ceroid lipofuscinoses

Gene table: neuronal ceroid lipofuscinoses (NCL)

Genetic basis and phenotypic correlations of the neuronal ceroid lipofusinoses.

Genetic linkage studies map the multiple endocrine neoplasia type 2 loci to a small interval on chromosome 10q11.2

Genetics of the neuronal ceroid lipofuscinoses (Batten disease).

Genomic structure and complete nucleotide sequence of the Batten disease gene, CLN3

Genomic structure of three CLN3-like genes in Caenorhabditis elegans

Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A.

Global network analysis in Schizosaccharomyces pombe reveals three distinct consequences of the common 1-kb deletion causing juvenile CLN3 disease

Guidelines for incorporating scientific knowledge and practice on rare diseases into higher education: neuronal ceroid lipofuscinoses as a model disorder

Homogeneous PCR nucleobase quenching assays to detect four mutations that cause neuronal ceroid lipofuscinosis: T75P and R151X in CLN1, and IVS5-1G>C and R208X in CLN2

Host proteins that bind to or mimic SV40 large T antigen: using antibodies to look at protein interactions and their significance.

Human papillomavirus type 16 E2 protein transcriptionally activates the promoter of a key cellular splicing factor, SF2/ASF.

Identification and characterization of Caenorhabditis elegans palmitoyl protein thioesterase1.

Identification of a transactivation motif in the CLN3 protein.

Involvement of the mitochondrial compartment in human NCL fibroblasts

Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features

Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6

Localisation of the gene for multiple endocrine neoplasia type 2A to a 480 kb region in chromosome band 10q11.2.

Loss of CLN7 results in depletion of soluble lysosomal proteins and impaired mTOR reactivation

Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6.

Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5

Molecular genetic analysis of neuronal ceroid lipofuscinosis.

Molecular genetics of the NCLs -- status and perspectives

Murine cathepsin F deficiency causes neuronal lipofuscinosis and late-onset neurological disease

Mutation of TBCK causes a rare recessive developmental disorder

Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis

Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease

Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis

Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis.

Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis

Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis.

Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits [published erratum appears in Hum Mol Genet 1998 Apr;7(4):765]

NCLs and ER: A stressful relationship.

Neurodegenerative disease: the neuronal ceroid lipofuscinoses (Batten disease).

Neuronal ceroid lipofuscinoses

Neuronal ceroid lipofuscinoses (NCL)

Neuronal ceroid lipofuscinoses (NCL)

Neuronal ceroid lipofuscinoses (NCL)