Joan S. Steffan
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View article: Huntingtin knockdown dysregulates autophagic degradation of Apolipoprotein E
Huntingtin knockdown dysregulates autophagic degradation of Apolipoprotein E Open
Background The HTT protein, mutated in Huntington's disease, is expressed throughout the body, and loss of HTT function as an autophagic scaffold may affect tissues and cellular processes. These processes include lipid metabolism potential…
View article: Aberrant splicing in Huntington’s disease accompanies disrupted TDP-43 activity and altered m6A RNA modification
Aberrant splicing in Huntington’s disease accompanies disrupted TDP-43 activity and altered m6A RNA modification Open
View article: Dysregulation of protein SUMOylation networks in Huntington’s disease R6/2 mouse striatum
Dysregulation of protein SUMOylation networks in Huntington’s disease R6/2 mouse striatum Open
Huntington’s disease is a neurodegenerative disorder caused by an expanded CAG repeat mutation in the Huntingtin (HTT) gene. The mutation impacts neuronal protein homeostasis and cortical/striatal circuitry. SUMOylation is a post-translati…
View article: Huntingtin contains an ubiquitin-binding domain and regulates lysosomal targeting of mitochondrial and RNA-binding proteins
Huntingtin contains an ubiquitin-binding domain and regulates lysosomal targeting of mitochondrial and RNA-binding proteins Open
Understanding the normal function of the Huntingtin (HTT) protein is of significance in the design and implementation of therapeutic strategies for Huntington’s disease (HD). Expansion of the CAG repeat in the HTT gene, encoding an expande…
View article: Aberrant splicing in Huntington’s disease via disrupted TDP-43 activity accompanied by altered m6A RNA modification
Aberrant splicing in Huntington’s disease via disrupted TDP-43 activity accompanied by altered m6A RNA modification Open
Huntington’s disease (HD) is a neurodegenerative disorder caused by a CAG repeat expansion in the first exon of the HTT gene encoding huntingtin. Prior reports have established a correlation between CAG expanded HTT and altered gene expres…
View article: Author Correction: Gene expression and functional deficits underlie TREM2-knockout microglia responses in human models of Alzheimer’s disease
Author Correction: Gene expression and functional deficits underlie TREM2-knockout microglia responses in human models of Alzheimer’s disease Open
The original version of this article contained an error in the labelling of the bar graphs to the right of Fig. 3b, 3c, 3d and 3e, in which the symbols + andrepresenting addition or absence of the SYK inhibitor R406, respectively, were ina…
View article: APOE4 dysregulates autophagy in cultured cells
APOE4 dysregulates autophagy in cultured cells Open
Human APOE4 (apolipoprotein E4 isoform) is a powerful genetic risk factor for late-onset Alzheimer disease (AD). Many groups have investigated the effect of APOE4 on the degradation of amyloid β (Aβ), the main component of plaques found in…
View article: Diminished LC3-Associated Phagocytosis by Huntington’s Disease Striatal Astrocytes
Diminished LC3-Associated Phagocytosis by Huntington’s Disease Striatal Astrocytes Open
Background: In recent years the functions of astrocytes have shifted from conventional supportive roles to also include active roles in altering synapses and engulfment of cellular debris. Recent studies have implicated astrocytes in both …
View article: Isoform-dependent lysosomal degradation and internalization of apolipoprotein E requires autophagy proteins
Isoform-dependent lysosomal degradation and internalization of apolipoprotein E requires autophagy proteins Open
The human apolipoprotein E4 isoform (APOE4) is the strongest genetic risk factor for late-onset Alzheimer's disease (AD), and lysosomal dysfunction has been implicated in AD pathogenesis. We found, by examining cells stably expressing each…
View article: Cooperation of cell adhesion and autophagy in the brain: Functional roles in development and neurodegenerative disease
Cooperation of cell adhesion and autophagy in the brain: Functional roles in development and neurodegenerative disease Open
Cellular adhesive connections directed by the extracellular matrix (ECM) and maintenance of cellular homeostasis by autophagy are seemingly disparate functions that are molecularly intertwined, each regulating the other. This is an emergin…
View article: Transglutaminase 6 Is Colocalized and Interacts with Mutant Huntingtin in Huntington Disease Rodent Animal Models
Transglutaminase 6 Is Colocalized and Interacts with Mutant Huntingtin in Huntington Disease Rodent Animal Models Open
Mammalian transglutaminases (TGs) catalyze calcium-dependent irreversible posttranslational modifications of proteins and their enzymatic activities contribute to the pathogenesis of several human neurodegenerative diseases. Although diffe…
View article: PIAS1 modulates striatal transcription, DNA damage repair, and SUMOylation with relevance to Huntington’s disease
PIAS1 modulates striatal transcription, DNA damage repair, and SUMOylation with relevance to Huntington’s disease Open
Significance Genetic variants in genes involved in maintenance of genomic stability are modifiers of Huntington’s disease (HD) age of onset. This study shows a connection between the E3 SUMO ligase PIAS1, DNA damage repair protein PNKP, an…
View article: Decision letter: Shape deformation analysis reveals the temporal dynamics of cell-type-specific homeostatic and pathogenic responses to mutant huntingtin
Decision letter: Shape deformation analysis reveals the temporal dynamics of cell-type-specific homeostatic and pathogenic responses to mutant huntingtin Open
View article: Gene expression and functional deficits underlie TREM2-knockout microglia responses in human models of Alzheimer’s disease
Gene expression and functional deficits underlie TREM2-knockout microglia responses in human models of Alzheimer’s disease Open
The discovery of TREM2 as a myeloid-specific Alzheimer’s disease (AD) risk gene has accelerated research into the role of microglia in AD. While TREM2 mouse models have provided critical insight, the normal and disease-associated functions…
View article: IKKβ slows Huntington’s disease progression in R6/1 mice
IKKβ slows Huntington’s disease progression in R6/1 mice Open
Significance Huntington’s disease (HD) is a devastating neurodegenerative disorder caused by expansion of a polyglutamine repeat within the huntingtin (HTT) protein. A normal function of HTT is that of a scaffold for selective autophagy, a…
View article: Longitudinal Biochemical Assay Analysis of Mutant Huntingtin Exon 1 Protein in R6/2 Mice
Longitudinal Biochemical Assay Analysis of Mutant Huntingtin Exon 1 Protein in R6/2 Mice Open
Conformational flux from soluble monomer to high molecular weight, insoluble species of mHTT exon 1 protein was generally consistent for multiple assay methods throughout R6/2 disease progression; however, the results support the use of mu…
View article: Striatal Mutant Huntingtin Protein Levels Decline with Age in Homozygous Huntington’s Disease Knock-In Mouse Models
Striatal Mutant Huntingtin Protein Levels Decline with Age in Homozygous Huntington’s Disease Knock-In Mouse Models Open
A general decline in mutant HTT levels in striatum and cortex is observed that may contribute to disease progression in homozygous knock-in HD mouse models through reduction of HTT function. In cerebellum, sustained levels of mutant HTT wi…
View article: Human Neural Stem Cell Transplantation Rescues Functional Deficits in R6/2 and Q140 Huntington's Disease Mice
Human Neural Stem Cell Transplantation Rescues Functional Deficits in R6/2 and Q140 Huntington's Disease Mice Open
View article: Human Neural Progenitor Transplantation Rescues Behavior and Reduces α-Synuclein in a Transgenic Model of Dementia with Lewy Bodies
Human Neural Progenitor Transplantation Rescues Behavior and Reduces α-Synuclein in a Transgenic Model of Dementia with Lewy Bodies Open
Synucleinopathies are a group of neurodegenerative disorders sharing the common feature of misfolding and accumulation of the presynaptic protein α-synuclein (α-syn) into insoluble aggregates. Within this diverse group, Dementia with Lewy …
View article: Serine 421 regulates mutant huntingtin toxicity and clearance in mice
Serine 421 regulates mutant huntingtin toxicity and clearance in mice Open
Huntington's disease (HD) is a progressive, adult-onset neurodegenerative disease caused by a polyglutamine (polyQ) expansion in the N-terminal region of the protein huntingtin (HTT). There are no cures or disease-modifying therapies for H…
View article: PIAS1 Regulates Mutant Huntingtin Accumulation and Huntington’s Disease-Associated Phenotypes In Vivo
PIAS1 Regulates Mutant Huntingtin Accumulation and Huntington’s Disease-Associated Phenotypes In Vivo Open
View article: A cause for childhood ataxia
A cause for childhood ataxia Open
Genetic studies uncover a mutation in a widely conserved protein as the cause of a neurological disorder in two brothers.