Gianna Fote
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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: Glioblastoma: From Pathophysiology to Novel Therapeutic Approaches
Glioblastoma: From Pathophysiology to Novel Therapeutic Approaches Open
Glioblastoma (GBM) is the most common and aggressive primary malignant brain tumor. Despite the current standard of care therapy, including maximal surgical resection, chemoradiation, and tumor-treating fields, prognosis remains poor. Ther…
View article: CNS Tumor with BCOR/BCORL1 Fusion: A Rare Tumor Entity
CNS Tumor with BCOR/BCORL1 Fusion: A Rare Tumor Entity Open
Central nervous system (CNS) tumor with BCL6 corepressor gene BCOR/BCORL1 fusion is an extremely rare tumor entity, with fewer than 40 cases reported. These tumors are distinct from the WHO 2021-defined CNS tumor with BCOR internal tandem …
View article: Utility and Efficacy of a Virtual Normal Pressure Hydrocephalus Support Group
Utility and Efficacy of a Virtual Normal Pressure Hydrocephalus Support Group Open
This study demonstrates that virtual, physician-led support groups can be effective in providing education, emotional, and peer support for NPH patients and their friends/families. Improved knowledge and accessibility to educational and so…
View article: A Single-center Experience of Coccidioides Meningitis in Immunocompetent Patients: Case Series and Literature Review
A Single-center Experience of Coccidioides Meningitis in Immunocompetent Patients: Case Series and Literature Review Open
Recently, the California Department of Public Health issued an advisory related to the substantial rise in Coccidioidomycosis in California, which has been attributed in part to climate change and rapid housing development. Most cases are …
View article: Delayed Posterior Fossa Hemorrhage Following a Tangential Gunshot Wound to the Occiput in a Patient With Chronic Liver Disease: A Case Report
Delayed Posterior Fossa Hemorrhage Following a Tangential Gunshot Wound to the Occiput in a Patient With Chronic Liver Disease: A Case Report Open
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: “Mail-slot” Technique for Minimally Invasive Placement of Subdural Grid Electrodes: A Single-institution Experience
“Mail-slot” Technique for Minimally Invasive Placement of Subdural Grid Electrodes: A Single-institution Experience Open
Our findings suggest that mini-craniotomies for subdural grid placement in epilepsy monitoring offer significant advantages, including smaller craniotomy sizes and shorter operation durations, without compromising safety or efficacy. These…
View article: Mesial temporal lobe epilepsy and hippocampal sclerosis associated with BRAFV600E mutant neurons in the Cornu Ammonis: an uncertain pathogenesis and a diagnostic challenge
Mesial temporal lobe epilepsy and hippocampal sclerosis associated with BRAFV600E mutant neurons in the Cornu Ammonis: an uncertain pathogenesis and a diagnostic challenge Open
Mesial temporal lobe epilepsy (MTLE) is a common cause of seizures, and hippocampal sclerosis (HS) is the predominant subtype. BRAFV600E mutations in MTLE-HS have only been reported infrequently. Herein, we illustrate the neurologic, radio…
View article: Cell-in-cell phenomena of intracellular neutrophils in a recurrent pleomorphic xanthoastrocytoma
Cell-in-cell phenomena of intracellular neutrophils in a recurrent pleomorphic xanthoastrocytoma Open
We describe a case of a young patient with a recurrent pleomorphic xanthoastrocytoma (PXA) showing unusual cell-in-cell (CiC) phenomena. We observed mostly viable but also necrotic neutrophils engulfed within tumor cells. The recurrent tum…
View article: 2438. Positive Cerebrospinal Fluid Cultures from Intraventricular Reservoirs for CLN2 Patients: One Institution's Experience
2438. Positive Cerebrospinal Fluid Cultures from Intraventricular Reservoirs for CLN2 Patients: One Institution's Experience Open
Background Enzyme replacement therapy (ERT) with cerliponase alfa (Brineura) has been shown to slow progression of milestone deterioration in Neuronal Ceroid Lipofuscinosis Type 2 (CLN2), an inherited neurodegenerative lysosomal storage di…
View article: Psychopharmacological management of a patient with traumatic encephalopathy syndrome and Parkinsonism following attempted suicide
Psychopharmacological management of a patient with traumatic encephalopathy syndrome and Parkinsonism following attempted suicide Open
An estimated 1.6 to 3.8 million cases of athletics-related traumatic brain injury (TBI) occur each year in the United States. While several studies have shown that antipsychotics or antidepressants may improve psychiatric symptoms after TB…
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: Intracranial Arterial Calcifications: Potential Biomarkers of Stroke Risk and Outcome
Intracranial Arterial Calcifications: Potential Biomarkers of Stroke Risk and Outcome Open
Intracranial artery calcifications (IAC), a common and easily identifiable finding on computed tomorgraphy angiography (CTA), has gained recognition as a possible risk factor for ischemic stroke. While atherosclerosis of intracranial arter…
View article: Pigmented ependymoma, a tumor with predilection for the middle-aged adult: case report with methylation classification and review of 16 literature cases
Pigmented ependymoma, a tumor with predilection for the middle-aged adult: case report with methylation classification and review of 16 literature cases Open
Ependymomas have rarely been described to contain pigment other than melanin, neuromelanin, lipofuscin or a combination. In this case report, we present a pigmented ependymoma in the fourth ventricle of an adult patient and review 16 addit…
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: First person – Gianna Fote
First person – Gianna Fote Open
First Person is a series of interviews with the first authors of a selection of papers published in Journal of Cell Science, helping early-career researchers promote themselves alongside their papers. Gianna Fote is first author on ‘ Isofo…
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: A Scoping Review of Dietary Factors Conferring Risk or Protection for Cognitive Decline in APOE ε4 Carriers
A Scoping Review of Dietary Factors Conferring Risk or Protection for Cognitive Decline in APOE ε4 Carriers Open
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: Second opinion in spine surgery: A scoping review
Second opinion in spine surgery: A scoping review Open
Background: As a growing number of patients seek consultations for increasingly complex and costly spinal surgery, it is of both clinical and economic value to investigate the role for second opinions (SOs). Here, we summarized and focused…
View article: Plasma Sphingomyelins in Late-Onset Alzheimer’s Disease
Plasma Sphingomyelins in Late-Onset Alzheimer’s Disease Open
Background: Altered plasma levels of sphingolipids, including sphingomyelins (SM), have been found in mouse models of Alzheimer’s disease (AD) and in AD patient plasma samples. Objective: This study assesses fourteen plasma SM species in a…
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: Back pain outcomes after minimally invasive anterior lumbar interbody fusion: a systematic review
Back pain outcomes after minimally invasive anterior lumbar interbody fusion: a systematic review Open
OBJECTIVE Minimally invasive anterior lumbar interbody fusion surgery (MIS ALIF) is a technique that restores disc height and lumbar lordosis through a smaller exposure and less soft-tissue trauma compared to open approaches. The mini-open…
View article: Head and neck cancer care in the COVID-19 pandemic: A brief update
Head and neck cancer care in the COVID-19 pandemic: A brief update Open
View article: The Effectiveness of Protective Headgear in Attenuating Ball-to-Forehead Impacts in Water Polo
The Effectiveness of Protective Headgear in Attenuating Ball-to-Forehead Impacts in Water Polo Open
Recent reports have demonstrated that there is a serious risk of head impact and injury in water polo. The use of protective headgear in contact sports is a commonly accepted strategy for reducing the risk of head injury, but there are few…
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: Head impacts sustained by male collegiate water polo athletes
Head impacts sustained by male collegiate water polo athletes Open
Water polo is a contact sport that is gaining popularity in the United States and carries a risk of repeated head impacts and concussion. The frequency and magnitude of sport-related head impacts have not been described for water polo. We …
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…