Debolina Biswas

Journal Article Respir Physiol Neurobiol · 2026 Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder caused by a deficiency of dystrophin. Dystrophin deficiency leads to progressive muscle weakness, including involvement of the respiratory muscles, ultimately resulting in respiratory fail ... Full text Link to item Cite

Progressive central cardiorespiratory rate downregulation and intensifying epilepsy lead to sudden unexpected death in epilepsy in mouse model of the most common human ATP1A3 mutation.

Journal Article Epilepsia · March 2025 OBJECTIVE: This study was undertaken to test the following hypotheses in the Atp1a3Mashl/+ mouse (which carries the most common human ATP1A3 (the major subunit of the neuronal Na+/K+-adenosine triphosphatase [ATPase]) mutation, D801N): sudden unexpected de ... Full text Link to item Cite

Respiratory pathology in the mdx/utrn -/- mouse: A murine model for Duchenne Muscular Dystrophy (DMD).

Journal Article PLoS One · 2025 Duchenne muscular dystrophy (DMD) is an X-linked devastating disease caused by a lack of dystrophin which results in progressive muscle weakness. As muscle weakness progresses, respiratory insufficiency and hypoventilation result in significant morbidity a ... Full text Link to item Cite

Respiratory characterization of a humanized Duchenne muscular dystrophy mouse model.

Journal Article Respir Physiol Neurobiol · August 2024 Duchenne muscular dystrophy (DMD) is the most common X-linked disease. DMD is caused by a lack of dystrophin, a critical structural protein in striated muscle. Dystrophin deficiency leads to inflammation, fibrosis, and muscle atrophy. Boys with DMD have pr ... Full text Link to item Cite

Respiratory neuropathology in spinocerebellar ataxia type 7.

Journal Article JCI Insight · July 18, 2024 Spinocerebellar ataxia type 7 (SCA7) is an autosomal dominant neurological disorder caused by deleterious CAG repeat expansion in the coding region of the ataxin 7 gene (polyQ-ataxin-7). Infantile-onset SCA7 leads to severe clinical manifestation of respir ... Full text Link to item Cite

Respiratory pathology in the TDP-43 transgenic mouse model of amyotrophic lateral sclerosis.

Journal Article Front Physiol · 2024 Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease that results in death within 2-5 years of diagnosis. Respiratory failure is the most common cause of death in ALS. Mutations in the transactive response DNA binding protein 43 ( ... Full text Link to item Cite

Yin Yang 1 controls cerebellar astrocyte maturation.

Journal Article Glia · October 2023 Diverse subpopulations of astrocytes tile different brain regions to accommodate local requirements of neurons and associated neuronal circuits. Nevertheless, molecular mechanisms governing astrocyte diversity remain mostly unknown. We explored the role of ... Full text Cite

GAA deficiency disrupts distal airway cells in Pompe disease.

Journal Article Am J Physiol Lung Cell Mol Physiol · September 1, 2023 Pompe disease is an autosomal recessive glycogen storage disease caused by mutations in the gene that encodes acid alpha-glucosidase (GAA)-an enzyme responsible for hydrolyzing lysosomal glycogen. GAA deficiency results in systemic lysosomal glycogen accum ... Full text Link to item Cite

Alveolar Cell Pathology in Pompe Disease

Conference B54. EARLY ORIGINS OF PEDIATRIC LUNG DISEASE · May 2023 Full text Cite

Respiratory Dysfunction in TDP-43 ^A315T Mice-Mouse Model of Amyotrophic Lateral Sclerosis

Conference C109. EVEN BETTER THAN THE REAL THING: ADVANCED MODELS OF LUNG DISEASE · May 2023 Full text Cite

The homeostatic function of Regnase-2 restricts neuroinflammation.

Journal Article FASEB journal : official publication of the Federation of American Societies for Experimental Biology · March 2023 The precise physiological functions and mechanisms regulating RNase Regnase-2 (Reg-2/ZC3H12B/MCPIP2) activity remain enigmatic. We found that Reg-2 actively modulates neuroinflammation in nontransformed cells, including primary astrocytes. Downregulation o ... Full text Cite

Neuro-respiratory pathology in spinocerebellar ataxia.

Journal Article J Neurol Sci · December 15, 2022 The spinocerebellar ataxias (SCA) are a heterogeneous group of neurodegenerative disorders with an autosomal dominant inheritance. Symptoms include poor coordination and balance, peripheral neuropathy, impaired vision, incontinence, respiratory insufficien ... Full text Link to item Cite

What's new and what's next for gene therapy in Pompe disease?

Journal Article Expert Opin Biol Ther · September 2022 INTRODUCTION: Pompe disease is an autosomal recessive disorder caused by a deficiency of acid-α-glucosidase (GAA), an enzyme responsible for hydrolyzing lysosomal glycogen. A lack of GAA leads to accumulation of glycogen in the lysosomes of cardiac, skelet ... Full text Link to item Cite

Cellular inhibitor of apoptosis 2 (cIAP2) restricts neuroinflammation during experimental autoimmune encephalomyelitis.

Journal Article Journal of neuroinflammation · June 2022 BackgroundImmune activation, neuroinflammation, and cell death are the hallmarks of multiple sclerosis (MS), which is an autoimmune demyelinating disease of the central nervous system (CNS). It is well-documented that the cellular inhibitor of apo ... Full text Cite

Accumulation of pathological Ataxin-7 in the medulla leads to hypoglossal (XII) motor unit pathology

Conference FASEB journal : official publication of the Federation of American Societies for Experimental Biology · May 1, 2022 SCA7 is an autosomal dominant neurological disorder caused by a deleterious CAG repeat expansion in the coding region of the ataxin-7 gene on chromosome 3. Patients with infantile SCA-7 have the largest repeat expansion characterized by progressive loss of ... Full text Cite

Respiratory dysfunction in a mouse model of spinocerebellar ataxia type 7.

Journal Article Dis Model Mech · July 1, 2021 Spinocerebellar ataxia type 7 (SCA7) is an autosomal-dominant neurodegenerative disorder caused by a CAG repeat expansion in the coding region of the ataxin-7 gene. Infantile-onset SCA7 patients display extremely large repeat expansions (>200 CAGs) and exh ... Full text Link to item Cite

Phrenic and Hypoglossal motor unit pathology in a Spinocerebellar ataxia type 7 mouse model

Conference The FASEB Journal · May 2021 Spinocerebellar ataxia type 7 (SCA7) is an autosomal dominant neurodegenerative disorder caused by a deleterious CAG repeat expansion in the coding region of the ataxin‐7 ... Full text Cite

Corrigendum to "Respiratory pathology in the optn-/- mouse model of amyotrophic lateral sclerosis" [Respir. Physiol. Neurobiol. 282 (2020) 103525].

Journal Article Respir Physiol Neurobiol · February 2021 Full text Link to item Cite

Yin Yang 1 sets up the stage for cerebellar astrocyte maturation

Conference GLIA · 2021 Cite

Respiratory pathology in the Optn-/- mouse model of Amyotrophic Lateral Sclerosis.

Journal Article Respir Physiol Neurobiol · November 2020 Amyotrophic Lateral Sclerosis (ALS) is a devastating neurodegenerative disorder that results in death due to respiratory failure. Many genetic defects are associated with ALS; one such defect is a mutation in the gene encoding optineurin (OPTN). Using an o ... Full text Link to item Cite

RelB controls adaptive responses of astrocytes during sterile inflammation.

Journal Article Glia · August 2019 In response to brain injury or infections, astrocytes become reactive, undergo striking morphological and functional changes, and secrete and respond to a spectrum of inflammatory mediators. We asked whether reactive astrocytes also display adaptive respon ... Full text Cite

A detrimental role of RelB in mature oligodendrocytes during experimental acute encephalomyelitis.

Journal Article Journal of neuroinflammation · July 2019 BackgroundMultiple sclerosis (MS) is an autoimmune demyelinating disease of the central nervous system (CNS). It is firmly established that overactivation of the p65 (RelA) nuclear factor kappa B (NF-κB) transcription factor upregulates expression ... Full text Cite

RelB acts as a molecular switch driving chronic inflammation in glioblastoma multiforme.

Journal Article Oncogenesis · May 2019 Glioblastoma multiforme (GBM) is a primary brain tumor characterized by extensive necrosis and immunosuppressive inflammation. The mechanisms by which this inflammation develops and persists in GBM remain elusive. We identified two cytokines interleukin-1β ... Full text Cite

Pattern Recognition Receptors in Multiple Sclerosis and Its Animal Models.

Journal Article Front Immunol · 2019 Pattern recognition receptors (PRRs) coordinate the innate immune response and have a significant role in the development of multiple sclerosis (MS). Accumulating evidence has identified both pathogenic and protective functions of PRR signaling in MS and i ... Full text Link to item Cite

ORMDL proteins regulate ceramide levels during sterile inflammation.

Journal Article Journal of lipid research · August 2016 The bioactive sphingolipid metabolite, ceramide, regulates physiological processes important for inflammation and elevated levels of ceramide have been implicated in IL-1-mediated events. Although much has been learned about ceramide generation by activati ... Full text Cite

Sphingosine-1-phosphate inhibits IL-1-induced expression of C-C motif ligand 5 via c-Fos-dependent suppression of IFN-β amplification loop.

Journal Article FASEB journal : official publication of the Federation of American Societies for Experimental Biology · December 2015 The neuroinflammation associated with multiple sclerosis involves activation of astrocytes that secrete and respond to inflammatory mediators such as IL-1. IL-1 stimulates expression of many chemokines, including C-C motif ligand (CCL) 5, that recruit immu ... Full text Cite

RelB/p50 complexes regulate cytokine-induced YKL-40 expression.

Journal Article Journal of immunology (Baltimore, Md. : 1950) · March 2015 The secreted protein, YKL-40, has been proposed as a biomarker of a variety of human diseases characterized by ongoing inflammation, including chronic neurologic pathologies such as multiple sclerosis and Alzheimer's disease. However, inflammatory mediator ... Full text Cite