List of works - Susan L Cotman

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

scientific article

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

scientific article

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

scientific article published on 22 February 2018

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

scientific article published on 27 November 2019

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

scientific article published on June 24, 2012

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

scientific article published on 18 August 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

scientific article published on 01 October 2002

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

scientific article published on 13 July 2016

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

scientific article published on February 17, 2011

Future perspectives: Moving towards NCL treatments

scientific article published on 06 April 2015

Genetics of the neuronal ceroid lipofuscinoses (Batten disease).

scientific article

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

scientific article

Individuals with progranulin haploinsufficiency exhibit features of neuronal ceroid lipofuscinosis.

scientific article

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

scientific article

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

scientific article

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

scientific article

Neuronal ceroid lipofuscinosis: impact of recent genetic advances and expansion of the clinicopathologic spectrum

scientific article published on August 2013

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

scientific article published on 16 March 2018

Partial correction of the CNS lysosomal storage defect in a mouse model of juvenile neuronal ceroid lipofuscinosis by neonatal CNS administration of an adeno-associated virus serotype rh.10 vector expressing the human CLN3 gene.

scientific article

Special issue: Molecular basis of NCL

scientific article published on 27 June 2015

Thalamocortical neuron loss and localized astrocytosis in the Cln3Deltaex7/8 knock-in mouse model of Batten disease

scientific article published on 11 July 2005

Unbiased Cell-based Screening in a Neuronal Cell Model of Batten Disease Highlights an Interaction between Ca2+ Homeostasis, Autophagy, and CLN3 Protein Function

scientific article published on 15 April 2015

X-ray fluorescence imaging reveals subcellular biometal disturbances in a childhood neurodegenerative disorder

scientific article

List of works by Susan L Cotman

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

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

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

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

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

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

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

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

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

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

Future perspectives: Moving towards NCL treatments

Genetics of the neuronal ceroid lipofuscinoses (Batten disease).

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

Individuals with progranulin haploinsufficiency exhibit features of neuronal ceroid lipofuscinosis.

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

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

Macroautophagy is defective in mucolipin-1-deficient mouse neurons

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

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

Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse

Neuronal ceroid lipofuscinosis: impact of recent genetic advances and expansion of the clinicopathologic spectrum

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

Partial correction of the CNS lysosomal storage defect in a mouse model of juvenile neuronal ceroid lipofuscinosis by neonatal CNS administration of an adeno-associated virus serotype rh.10 vector expressing the human CLN3 gene.

Special issue: Molecular basis of NCL

Thalamocortical neuron loss and localized astrocytosis in the Cln3Deltaex7/8 knock-in mouse model of Batten disease

Unbiased Cell-based Screening in a Neuronal Cell Model of Batten Disease Highlights an Interaction between Ca2+ Homeostasis, Autophagy, and CLN3 Protein Function

X-ray fluorescence imaging reveals subcellular biometal disturbances in a childhood neurodegenerative disorder