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List of works by Sara E. Mole

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

scientific article published in February 2009

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

scientific article

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

scientific article published on 11 November 2015

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

scientific article published on 18 October 2007

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

scientific article

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

scientific article published on 01 March 1994

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

scientific article

Analysis of Batten disease candidate genesSTP andSTM

article

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

scientific article

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

scientific article published on 18 August 2011

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

scientific article published on 01 February 1993

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

scientific article

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

scientific article published on March 1995

Batten's disease: eight genes and still counting?

scientific article published in The Lancet

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

scientific article

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

scientific article published on 02 June 2013

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

scientific article

CLN8 disease caused by large genomic deletions

scientific article published on 23 November 2016

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

scientific article

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

scientific article

Cellular targets for SV40 large T-antigen.

scientific article

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

scientific article published on September 2006

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

scientific article

Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis

scientific article published on 21 November 2018

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

scientific article

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

scientific article

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

scientific article published on 17 March 2010

Development of new treatments for Batten disease

article

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

scientific article published on 13 July 2016

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

scientific article published on 25 July 2016

Dinucleotide repeat polymorphisms at the D10S183 and D10S245 loci

scientific article

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

scientific article published in October 1998

Epitope Mapping

scientific article published on 01 January 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.

scientific article published in January 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

scientific article published on 06 April 2015

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

scientific article published on 01 January 2018

Gene table: Neuronal ceroid lipofuscinoses

article

Gene table: neuronal ceroid lipofuscinoses (NCL)

scientific article published on 01 January 1997

Genetic basis and phenotypic correlations of the neuronal ceroid lipofusinoses.

scientific article

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

scientific article published on 01 March 1993

Genetics of the neuronal ceroid lipofuscinoses (Batten disease).

scientific article

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

scientific article (publication date: March 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.

scientific article

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

scientific article published on 18 March 2021

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

scientific article published on 24 June 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.

scientific article

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

scientific article published on 22 October 2008

Identification and characterization of Caenorhabditis elegans palmitoyl protein thioesterase1.

scientific article published in March 2005

Identification of a transactivation motif in the CLN3 protein.

scientific article published in May 2001

Involvement of the mitochondrial compartment in human NCL fibroblasts

scientific article

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

scientific article published on 01 January 2019

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

scientific article

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

scientific article published on March 1993

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

scientific article published on 5 March 2018

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

scientific article

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

scientific article (publication date: 1999)

Molecular genetic analysis of neuronal ceroid lipofuscinosis.

scientific article

Molecular genetics of the NCLs -- status and perspectives

scientific article

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

scientific article

Mutation of TBCK causes a rare recessive developmental disorder

scientific article published on 24 May 2016

Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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]

article

NCLs and ER: A stressful relationship.

scientific article published on 5 April 2017

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

scientific article

Neuronal ceroid lipofuscinoses

scientific article published on 01 January 2001

Neuronal ceroid lipofuscinoses (NCL)

scientific article published on 01 September 2006

Neuronal ceroid lipofuscinoses (NCL)

scientific article published on 01 January 2004

Neuronal ceroid lipofuscinoses (NCL)

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

scientific article published on 29 March 2011

New mutations in the neuronal ceroid lipofuscinosis genes.

scientific article

New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses

scientific article published on July 2012

Novel CLN3 mutation causing autophagic vacuolar myopathy

scientific article

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

scientific article

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

article

Pirkko Santavuori (1933-2004).

scientific article published in June 2004

Prenatal Diagnosis of Disorders of Lipid Metabolism

Prenatal diagnosis of Batten's disease

scientific article published in The Lancet

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

scientific article published on May 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

scientific article published on 19 March 2009

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

scientific article published on September 1998

Special issue: Molecular basis of NCL

scientific article published on 27 June 2015

Special issue: molecular basis of the NCLs

scientific article published on 29 May 2013

Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis

scientific article

Spectrum of mutations in the Batten disease gene, CLN3

scientific article

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

scientific article published on 01 February 1997

Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage

scientific article

Structure and function of SV40 large-T antigen.

scientific article

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

scientific article

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

scientific article published on 13 January 2016

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

scientific article published on 22 December 2008

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

scientific article

The genetic spectrum of human neuronal ceroid-lipofuscinoses

scientific article

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

scientific article

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

scientific article

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

scientific article published on 29 May 2017

Therapeutic approaches to the challenge of neuronal ceroid lipofuscinoses.

scientific article published on June 2011

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

scientific article

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

scientific article

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

scientific article published on June 1985

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

scientific article published on April 1989

Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6

scientific article published on 07 January 2009

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

scientific article

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

scientific article published on 01 January 1998

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

scientific article published on 10 March 2008

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

scientific article published on 15 November 2005

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