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Article: Cry1

Schirmer, Aaron E / Kumar, Vivek / Schook, Andrew / Song, Eun Joo / Marshall, Michael S / Takahashi, Joseph S

2023 Volume 17, Page(s) 1166137

Abstract: The mammalian circadian system generates an approximate 24-h rhythm through a complex autoregulatory feedback loop. Four genes, ...

Abstract	The mammalian circadian system generates an approximate 24-h rhythm through a complex autoregulatory feedback loop. Four genes,
Language	English
Publishing date	2023-06-14
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2411902-7
ISSN	1662-453X ; 1662-4548
ISSN (online)	1662-453X
ISSN	1662-4548
DOI	10.3389/fnins.2023.1166137
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Article ; Online: Case 7-2022: A 65-Year-Old Woman with Depression, Recurrent Falls, and Inability to Care for Herself.

Forst, Deborah A / Restrepo, Judith A / Gonzalez, R Gilberto / Jones, Pamela S / Marshall, Michael S

The New England journal of medicine

2022 Volume 386, Issue 10, Page(s) 977–986

MeSH term(s)	Accidental Falls ; Activities of Daily Living ; Aged ; Biopsy ; Brain/diagnostic imaging ; Brain/pathology ; Depression/etiology ; Diagnosis, Differential ; Female ; Frontal Lobe/pathology ; Humans ; Lymphoma, Large B-Cell, Diffuse/complications ; Lymphoma, Large B-Cell, Diffuse/diagnosis ; Magnetic Resonance Imaging
Language	English
Publishing date	2022-03-09
Publishing country	United States
Document type	Case Reports ; Clinical Conference ; Journal Article
ZDB-ID	207154-x
ISSN	1533-4406 ; 0028-4793
ISSN (online)	1533-4406
ISSN	0028-4793
DOI	10.1056/NEJMcpc2115853
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Article ; Online: Gal - T Knockout Porcine Nerve Xenografts Support Axonal Regeneration in a Rodent Sciatic Nerve Model.

King, Nicholas C / Tsui, Jane M / Bejar-Chapa, Maria / Marshall, Michael S / Kogosov, Ann S / Fan, Yingfang / Hansdorfer, Marek A / Locascio, Joseph J / Randolph, Mark A / Winograd, Jonathan M

Plastic and reconstructive surgery

2024

Abstract: Background: Nerve xenografts harvested from transgenic α1,3-galactosyltransferase knockout (GalT-KO) pigs lack the epitope responsible for hyperacute rejection in pig-to-primate transplants. It is unknown whether these cold preserved nerve grafts ... ...

Abstract	Background: Nerve xenografts harvested from transgenic α1,3-galactosyltransferase knockout (GalT-KO) pigs lack the epitope responsible for hyperacute rejection in pig-to-primate transplants. It is unknown whether these cold preserved nerve grafts support axonal regeneration in another species during and after immunosuppression. In this study, we compare outcomes between autografts and cold preserved xenografts in a rat sciatic model of nerve gap repair. Methods: Fifty male Lewis rats had a 1 cm sciatic nerve defect repaired using either: autograft and suture (n=10); 1-week or 4-week cold preserved xenograft and suture (n=10 per group); 1-week or 4-week cold preserved xenograft and photochemical tissue bonding using a human amnion wrap (PTB/HAM) (n=10 per group). Rats with xenografts were given tacrolimus until 4 months post-operatively. At 4 and 7 months, rats were euthanized and nerve sections harvested. Monthly sciatic functional index (SFI) scores were calculated. Results: All groups showed increases in SFI scores by 4 and 7 months. The autograft suture group had the highest axon density at 4 and 7 months. The largest decrease in axon density from 4 to 7 months was in the 1-week cold preserved PTB/HAM group. The only significant difference between group SFI scores occurred at 5 months, when both 1-week cold preserved groups had significantly lower scores than the 4-week cold preserved suture group. Conclusions: Our results in the rat sciatic model suggest that GalT-KO nerve xenografts may be viable alternatives to autografts and demonstrate the need for further studies of long-gap repair and comparison with acellular nerve allografts. Clinical relevance: This proof-of-concept study in the rat sciatic model demonstrates that cold preserved GalT-KO porcine xenografts support axonal regeneration, as well as axonal viability following immunosuppression withdrawal. These results further suggest a role for both cold preservation and photochemical tissue bonding in modulating the immunological response at the nerve repair site.
Language	English
Publishing date	2024-03-29
Publishing country	United States
Document type	Journal Article
ZDB-ID	208012-6
ISSN	1529-4242 ; 0032-1052 ; 0096-8501
ISSN (online)	1529-4242
ISSN	0032-1052 ; 0096-8501
DOI	10.1097/PRS.0000000000011441
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Article ; Online: Beyond Krabbe's disease: The potential contribution of galactosylceramidase deficiency to neuronal vulnerability in late-onset synucleinopathies.

Marshall, Michael S / Bongarzone, Ernesto R

Journal of neuroscience research

2016 Volume 94, Issue 11, Page(s) 1328–1332

Abstract: New insights into the pathophysiological mechanisms behind late-onset neurodegenerative diseases have come from unexpected sources in recent years. Specifically, the group of inherited metabolic disorders known as lysosomal storage diseases that most ... ...

Abstract	New insights into the pathophysiological mechanisms behind late-onset neurodegenerative diseases have come from unexpected sources in recent years. Specifically, the group of inherited metabolic disorders known as lysosomal storage diseases that most commonly affect infants has been found to have surprising similarities with adult neurodegenerative disorders. Most notable has been the identification of Gaucher's disease as a comorbidity for Parkinson's disease. Prompted by the recent identification of neuronal aggregates of α-synuclein in another lysosomal storage disease, Krabbe's disease, we propose the idea that a similar connection exists between adult synucleinopathies and Krabbe's. Similarities between the two diseases, including the pattern of α-synuclein aggregation in the brain of the twitcher mouse (the authentic murine model of Krabbe's disease), changes to lipid membrane dynamics, and possible dysfunction in synaptic function and macroautophagy, underscore a link between Krabbe's disease and late-onset synucleinopathies. Silent GALC mutations may even constitute a risk factor for the development of Parkinson's in certain patients. More research is required to identify definitively any link and the validity of this hypothesis, but such a connection would prove invaluable for developing novel therapeutic targets for Parkinson's based on our current understanding of Krabbe's disease and for establishing new biomarkers for the identification of at-risk patients. © 2016 Wiley Periodicals, Inc.
MeSH term(s)	Animals ; Brain/pathology ; Cell Membrane Structures/pathology ; Galactosylceramidase/genetics ; Galactosylceramidase/metabolism ; Genetic Predisposition to Disease ; Humans ; Leukodystrophy, Globoid Cell/genetics ; Leukodystrophy, Globoid Cell/metabolism ; Leukodystrophy, Globoid Cell/pathology ; Lipids/physiology ; Mutation/genetics ; Neurons/metabolism ; Neurons/pathology ; Protein Aggregates/genetics ; alpha-Synuclein/metabolism
Chemical Substances	Lipids ; Protein Aggregates ; alpha-Synuclein ; Galactosylceramidase (EC 3.2.1.46)
Language	English
Publishing date	2016-11
Publishing country	United States
Document type	Journal Article
ZDB-ID	195324-2
ISSN	1097-4547 ; 0360-4012
ISSN (online)	1097-4547
ISSN	0360-4012
DOI	10.1002/jnr.23751
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Article: Successful Treatment of Delayed Localized Necrotizing Inflammatory Myositis After Severe Acute Respiratory Syndrome Coronavirus 2 mRNA-1273 Vaccine: A Case Report.

Li, Jennifer Chen / Siglin, Jonathan / Marshall, Michael S / Stemmer-Rachamimov, Anat / Bloom, Seth M / Blumenthal, Kimberly G

Open forum infectious diseases

2022 Volume 9, Issue 10, Page(s) ofac499

Abstract: Reported adverse reactions to the mRNA-1273 vaccine (Spikevax, Moderna Inc) against severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) range from mild, local delayed cutaneous reactions to rarer, more serious reactions such as myocarditis. Here, ...

Abstract	Reported adverse reactions to the mRNA-1273 vaccine (Spikevax, Moderna Inc) against severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) range from mild, local delayed cutaneous reactions to rarer, more serious reactions such as myocarditis. Here, we describe the presentation and successful treatment of delayed, localized necrotizing inflammatory myositis following a third dose of the mRNA-1273 SARS-CoV-2 vaccine. To our knowledge, this is the first report of biopsy-confirmed, delayed inflammatory myositis after administration of an mRNA-1273 SARS-CoV-2 vaccine booster.
Language	English
Publishing date	2022-09-27
Publishing country	United States
Document type	Case Reports
ZDB-ID	2757767-3
ISSN	2328-8957
ISSN	2328-8957
DOI	10.1093/ofid/ofac499
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Article: AAV-Mediated GALC Gene Therapy Rescues Alpha-Synucleinopathy in the Spinal Cord of a Leukodystrophic Lysosomal Storage Disease Mouse Model.

Marshall, Michael S / Issa, Yazan / Heller, Gregory / Nguyen, Duc / Bongarzone, Ernesto R

Frontiers in cellular neuroscience

2020 Volume 14, Page(s) 619712

Abstract: Krabbe's disease (KD) is primarily a demyelinating disorder, but recent studies have identified the presence of neuronal protein aggregates in the brain, at least partially composed by alpha-synuclein (α-syn). The role of this protein aggregation in the ... ...

Abstract	Krabbe's disease (KD) is primarily a demyelinating disorder, but recent studies have identified the presence of neuronal protein aggregates in the brain, at least partially composed by alpha-synuclein (α-syn). The role of this protein aggregation in the pathogenesis of KD is largely unknown, but it has added KD to a growing list of lysosomal storage diseases that can be also be considered as proteinopathies. While the presence of these protein aggregates within the KD brain is now appreciated, the remainder of the central nervous system (CNS) remains uncharacterized. This study is the first to report the presence of thioflavin-S reactive inclusions throughout the spinal cord of both murine and human spinal tissue. Stereological analysis revealed the temporal and spatial accumulation of these inclusions within the neurons of the ventral spinal cord vs. those located in the dorsal cord. This study also confirmed that these thio-S positive accumulations are present within neuronal populations and are made up at least in part by α-syn in both the twitcher mouse and cord autopsied material from affected human patients. Significantly, neonatal gene therapy for galactosylceramidase, a treatment that strongly improves the survival and health of KD mice, but not bone marrow transplantation prevents the formation of these inclusions in spinal neurons. These results expand the understanding of α-syn protein aggregation within the CNS of individuals afflicted with KD and underlines the tractability of this problem via early gene therapy, with potential impact to other synucleinopathies such as PD.
Language	English
Publishing date	2020-12-23
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2452963-1
ISSN	1662-5102
ISSN	1662-5102
DOI	10.3389/fncel.2020.619712
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Article: Dispersion-Weighted Explicitly Correlated Coupled-Cluster Theory [DW-CCSD(T**)-F12].

Marshall, Michael S / Sherrill, C David

Journal of chemical theory and computation

2011 Volume 7, Issue 12, Page(s) 3978–3982

Abstract: We propose a procedure denoted dispersion-weighted explicitly correlated coupled-cluster [DW-CCSD(T**)-F12] which mixes CCSD(T**)-F12a and CCSD(T**)-F12b so as to correct the small errors exhibited by each of the approximations in a small basis set, ... ...

Abstract	We propose a procedure denoted dispersion-weighted explicitly correlated coupled-cluster [DW-CCSD(T)-F12] which mixes CCSD(T)-F12a and CCSD(T)-F12b so as to correct the small errors exhibited by each of the approximations in a small basis set, allowing for a black-box method that can provide high-quality interaction energies for a variety of nonbonded interactions. Relative to CCSD(T)-F12a and CCSD(T)-F12b, DW-CCSD(T)-F12 reduces the mean absolute deviation by a factor of 2 and the maximum error by a factor of 3 (formic acid dimer) and 4 (stacked adenine-thymine) for the aug-cc-pVDZ basis set.
Language	English
Publishing date	2011-12-13
Publishing country	United States
Document type	Journal Article
ISSN	1549-9618
ISSN	1549-9618
DOI	10.1021/ct200600p
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Article ; Online: Appointing silver and bronze standards for noncovalent interactions: a comparison of spin-component-scaled (SCS), explicitly correlated (F12), and specialized wavefunction approaches.

Burns, Lori A / Marshall, Michael S / Sherrill, C David

The Journal of chemical physics

2014 Volume 141, Issue 23, Page(s) 234111

Abstract: A systematic examination of noncovalent interactions as modeled by wavefunction theory is presented in comparison to gold-standard quality benchmarks available for 345 interaction energies of 49 bimolecular complexes. Quantum chemical techniques examined ...

Abstract	A systematic examination of noncovalent interactions as modeled by wavefunction theory is presented in comparison to gold-standard quality benchmarks available for 345 interaction energies of 49 bimolecular complexes. Quantum chemical techniques examined include spin-component-scaling (SCS) variations on second-order perturbation theory (MP2) [SCS, SCS(N), SCS(MI)] and coupled cluster singles and doubles (CCSD) [SCS, SCS(MI)]; also, method combinations designed to improve dispersion contacts [DW-MP2, MP2C, MP2.5, DW-CCSD(T)-F12]; where available, explicitly correlated (F12) counterparts are also considered. Dunning basis sets augmented by diffuse functions are employed for all accessible ζ-levels; truncations of the diffuse space are also considered. After examination of both accuracy and performance for 394 model chemistries, SCS(MI)-MP2/cc-pVQZ can be recommended for general use, having good accuracy at low cost and no ill-effects such as imbalance between hydrogen-bonding and dispersion-dominated systems or non-parallelity across dissociation curves. Moreover, when benchmarking accuracy is desirable but gold-standard computations are unaffordable, this work recommends silver-standard [DW-CCSD(T**)-F12/aug-cc-pVDZ] and bronze-standard [MP2C-F12/aug-cc-pVDZ] model chemistries, which support accuracies of 0.05 and 0.16 kcal/mol and efficiencies of 97.3 and 5.5 h for adenine·thymine, respectively. Choice comparisons of wavefunction results with the best symmetry-adapted perturbation theory [T. M. Parker, L. A. Burns, R. M. Parrish, A. G. Ryno, and C. D. Sherrill, J. Chem. Phys. 140, 094106 (2014)] and density functional theory [L. A. Burns, Á. Vázquez-Mayagoitia, B. G. Sumpter, and C. D. Sherrill, J. Chem. Phys. 134, 084107 (2011)] methods previously studied for these databases are provided for readers' guidance.
MeSH term(s)	HIV Protease/chemistry ; HIV Protease/metabolism ; HIV-2/enzymology ; Hydrogen Bonding ; Indinavir/chemistry ; Indinavir/metabolism ; Molecular Conformation ; Molecular Docking Simulation ; Organic Chemicals/chemistry ; Quantum Theory ; Reference Standards ; Static Electricity ; Thermodynamics
Chemical Substances	Organic Chemicals ; Indinavir (5W6YA9PKKH) ; HIV Protease (EC 3.4.23.-)
Language	English
Publishing date	2014-12-21
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, Non-P.H.S.
ZDB-ID	3113-6
ISSN	1089-7690 ; 0021-9606
ISSN (online)	1089-7690
ISSN	0021-9606
DOI	10.1063/1.4903765
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Article ; Online: Comparing Counterpoise-Corrected, Uncorrected, and Averaged Binding Energies for Benchmarking Noncovalent Interactions.

Burns, Lori A / Marshall, Michael S / Sherrill, C David

Journal of chemical theory and computation

2014 Volume 10, Issue 1, Page(s) 49–57

Language	English
Publishing date	2014-01-14
Publishing country	United States
Document type	Journal Article
ISSN	1549-9626
ISSN (online)	1549-9626
DOI	10.1021/ct400149j
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Article: Machine learning of dissection photographs and surface scanning for quantitative 3D neuropathology.

Gazula, Harshvardhan / Tregidgo, Henry F J / Billot, Benjamin / Balbastre, Yael / William-Ramirez, Jonathan / Herisse, Rogeny / Deden-Binder, Lucas J / Casamitjana, Adrià / Melief, Erica J / Latimer, Caitlin S / Kilgore, Mitchell D / Montine, Mark / Robinson, Eleanor / Blackburn, Emily / Marshall, Michael S / Connors, Theresa R / Oakley, Derek H / Frosch, Matthew P / Young, Sean I /

Van Leemput, Koen / Dalca, Adrian V / FIschl, Bruce / Mac Donald, Christine L / Keene, C Dirk / Hyman, Bradley T / Iglesias, Juan Eugenio

bioRxiv : the preprint server for biology

2024

Abstract: We present open-source tools for 3D analysis of photographs of dissected slices of human brains, which are routinely acquired in brain banks but seldom used for quantitative analysis. Our tools can: ...

Abstract	We present open-source tools for 3D analysis of photographs of dissected slices of human brains, which are routinely acquired in brain banks but seldom used for quantitative analysis. Our tools can:
Language	English
Publishing date	2024-01-30
Publishing country	United States
Document type	Preprint
DOI	10.1101/2023.06.08.544050
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