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  1. Article: Putting It All Together: Postmortem Diagnosis of a Rare Ichthyosis Syndrome.

    Jain, Pragya Virendrakumar / Maxey, Jauntea / W Lawlor, Michael / Parsons, Lauren N

    Cureus

    2023  Volume 15, Issue 5, Page(s) e38787

    Abstract: Neu-Laxova syndrome (NLS) is a rare lethal disorder with autosomal recessive inheritance and is characterized by multiple congenital anomalies. Our case of NLS presented with severe intrauterine growth restriction (IUGR), abnormal facial features, severe ...

    Abstract Neu-Laxova syndrome (NLS) is a rare lethal disorder with autosomal recessive inheritance and is characterized by multiple congenital anomalies. Our case of NLS presented with severe intrauterine growth restriction (IUGR), abnormal facial features, severe central nervous system malformations, skeletal muscle contractures, and the hallmark signs of NLS: ichthyotic skin and excessive subcutaneous tissue with edema. Additionally, testing amniotic fluid from a prior pregnancy with a fetus showing similar abnormalities revealed several regions of homozygosity; one of these regions involved chromosome 1p13.2-p11.2, where the
    Language English
    Publishing date 2023-05-09
    Publishing country United States
    Document type Case Reports
    ZDB-ID 2747273-5
    ISSN 2168-8184
    ISSN 2168-8184
    DOI 10.7759/cureus.38787
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  2. Article ; Online: X-linked myotubular myopathy.

    Lawlor, Michael W / Dowling, James J

    Neuromuscular disorders : NMD

    2021  Volume 31, Issue 10, Page(s) 1004–1012

    Abstract: X-linked myotubular myopathy (XLMTM) is a severe congenital muscle disease caused by mutation in the MTM1 gene. MTM1 encodes myotubularin (MTM1), an endosomal phosphatase that acts to dephosphorylate key second messenger lipids PI3P and PI3,5P2. XLMTM is ...

    Abstract X-linked myotubular myopathy (XLMTM) is a severe congenital muscle disease caused by mutation in the MTM1 gene. MTM1 encodes myotubularin (MTM1), an endosomal phosphatase that acts to dephosphorylate key second messenger lipids PI3P and PI3,5P2. XLMTM is clinically characterized by profound muscle weakness and associated with multiple disabilities (including ventilator and wheelchair dependence) and early death in most affected individuals. The disease is classically defined by characteristic changes observed on muscle biopsy, including centrally located nuclei, myofiber hypotrophy, and organelle disorganization. In this review, we highlight the clinical and pathologic features of the disease, present concepts related to disease pathomechanisms, and present recent advances in therapy development.
    MeSH term(s) Female ; Humans ; Male ; Muscle Weakness/pathology ; Muscle, Skeletal/pathology ; Mutation ; Myopathies, Structural, Congenital/diagnosis ; Phenotype ; Protein Tyrosine Phosphatases, Non-Receptor
    Chemical Substances Protein Tyrosine Phosphatases, Non-Receptor (EC 3.1.3.48) ; myotubularin (EC 3.1.3.48)
    Language English
    Publishing date 2021-11-04
    Publishing country England
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 1077681-3
    ISSN 1873-2364 ; 0960-8966
    ISSN (online) 1873-2364
    ISSN 0960-8966
    DOI 10.1016/j.nmd.2021.08.003
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 3258: Show issues Location:
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  3. Article ; Online: In Reply.

    Lawlor, Michael W

    Archives of pathology & laboratory medicine

    2016  Volume 140, Issue 9, Page(s) 879

    Language English
    Publishing date 2016
    Publishing country United States
    Document type Letter ; Comment
    ZDB-ID 194119-7
    ISSN 1543-2165 ; 0363-0153 ; 0096-8528 ; 0003-9985
    ISSN (online) 1543-2165
    ISSN 0363-0153 ; 0096-8528 ; 0003-9985
    DOI 10.5858/arpa.2016-0140-LE
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  4. Article: Effects of Regulatory T Cell Depletion in BALB/c Mice Infected with Low Doses of

    Santiago, Kaitlyn N / Kozlik, Tanya / Liedhegner, Elizabeth S / Slick, Rebecca A / Lawlor, Michael W / Nardelli, Dean T

    Pathogens (Basel, Switzerland)

    2023  Volume 12, Issue 2

    Abstract: We previously demonstrated that a depletion of regulatory T (Treg) cells in Lyme arthritis-resistant C57BL/6 mice leads to pathological changes in the tibiotarsal joints following infection ... ...

    Abstract We previously demonstrated that a depletion of regulatory T (Treg) cells in Lyme arthritis-resistant C57BL/6 mice leads to pathological changes in the tibiotarsal joints following infection with
    Language English
    Publishing date 2023-01-25
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2695572-6
    ISSN 2076-0817
    ISSN 2076-0817
    DOI 10.3390/pathogens12020189
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  5. Article ; Online: A Long-Term Study Evaluating the Effects of Nicorandil Treatment on Duchenne Muscular Dystrophy-Associated Cardiomyopathy in

    Gartz, Melanie / Haberman, Margaret / Prom, Mariah J / Beatka, Margaret J / Strande, Jennifer L / Lawlor, Michael W

    Journal of cardiovascular pharmacology and therapeutics

    2022  Volume 27, Page(s) 10742484221088655

    Abstract: Background: Duchenne muscular dystrophy (DMD) is a neuromuscular disease caused by dystrophin gene mutations affecting striated muscle. Due to advances in skeletal muscle treatment, cardiomyopathy has emerged as a leading cause of death. Previously, ... ...

    Abstract Background: Duchenne muscular dystrophy (DMD) is a neuromuscular disease caused by dystrophin gene mutations affecting striated muscle. Due to advances in skeletal muscle treatment, cardiomyopathy has emerged as a leading cause of death. Previously, nicorandil, a drug with antioxidant and nitrate-like properties, ameliorated cardiac damage and improved cardiac function in young, injured
    Methods and results: Nicorandil (6 mg/kg) was given over 15 months. Echocardiography of
    Conclusions: In contrast to our prior work in young, injured
    MeSH term(s) Animals ; Cardiomyopathies/drug therapy ; Cardiomyopathies/etiology ; Cardiomyopathies/prevention & control ; Heart ; Mice ; Mice, Inbred mdx ; Muscular Dystrophy, Duchenne/complications ; Muscular Dystrophy, Duchenne/drug therapy ; Muscular Dystrophy, Duchenne/genetics ; Nicorandil/pharmacology
    Chemical Substances Nicorandil (260456HAM0)
    Language English
    Publishing date 2022-03-30
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural
    ZDB-ID 1329372-2
    ISSN 1940-4034 ; 1074-2484
    ISSN (online) 1940-4034
    ISSN 1074-2484
    DOI 10.1177/10742484221088655
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 4895: Show issues Location:
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  6. Article ; Online: ACTA1 H40Y mutant iPSC-derived skeletal myocytes display mitochondrial defects in an in vitro model of nemaline myopathy.

    Gartz, Melanie / Haberman, Margaret / Sutton, Jessica / Slick, Rebecca A / Luttrell, Shawn M / Mack, David L / Lawlor, Michael W

    Experimental cell research

    2023  Volume 424, Issue 2, Page(s) 113507

    Abstract: Nemaline myopathies (NM) are a group of congenital myopathies that lead to muscle weakness and dysfunction. While 13 genes have been identified to cause NM, over 50% of these genetic defects are due to mutations in nebulin (NEB) and skeletal muscle actin ...

    Abstract Nemaline myopathies (NM) are a group of congenital myopathies that lead to muscle weakness and dysfunction. While 13 genes have been identified to cause NM, over 50% of these genetic defects are due to mutations in nebulin (NEB) and skeletal muscle actin (ACTA1), which are genes required for normal assembly and function of the thin filament. NM can be distinguished on muscle biopsies due to the presence of nemaline rods, which are thought to be aggregates of the dysfunctional protein. Mutations in ACTA1 have been associated with more severe clinical disease and muscle weakness. However, the cellular pathogenesis linking ACTA1 gene mutations to muscle weakness are unclear To evaluate cellular disease phenotypes, iPSC-derived skeletal myocytes (iSkM) harboring an ACTA1 H40Y point mutation were used to model NM in skeletal muscle. These were generated by Crispr-Cas9, and include one non-affected healthy control (C) and 2 NM iPSC clone lines, therefore representing isogenic controls. Fully differentiated iSkM were characterized to confirm myogenic status and subject to assays to evaluate nemaline rod formation, mitochondrial membrane potential, mitochondrial permeability transition pore (mPTP) formation, superoxide production, ATP/ADP/phosphate levels and lactate dehydrogenase release. C- and NM-iSkM demonstrated myogenic commitment as evidenced by mRNA expression of Pax3, Pax7, MyoD, Myf5 and Myogenin; and protein expression of Pax4, Pax7, MyoD and MF20. No nemaline rods were observed with immunofluorescent staining of NM-iSkM for ACTA1 or ACTN2, and these mRNA transcript and protein levels were comparable to C-iSkM. Mitochondrial function was altered in NM, as evidenced by decreased cellular ATP levels and altered mitochondrial membrane potential. Oxidative stress induction revealed the mitochondrial phenotype, as evidenced by collapsed mitochondrial membrane potential, early formation of the mPTP and increased superoxide production. Early mPTP formation was rescued with the addition of ATP to media. Together, these findings suggest that mitochondrial dysfunction and oxidative stress are disease phenotypes in the in vitro model of ACTA1 nemaline myopathy, and that modulation of ATP levels was sufficient to protect NM-iSkM mitochondria from stress-induced injury. Importantly, the nemaline rod phenotype was absent in our in vitro model of NM. We conclude that this in vitro model has the potential to recapitulate human NM disease phenotypes, and warrants further study.
    MeSH term(s) Humans ; Myopathies, Nemaline/genetics ; Myopathies, Nemaline/pathology ; Induced Pluripotent Stem Cells/metabolism ; Superoxides/metabolism ; Muscle, Skeletal/metabolism ; Muscle Fibers, Skeletal/metabolism ; Muscle Weakness/genetics ; Muscle Weakness/pathology ; Actins/genetics ; Actins/metabolism ; Mutation ; Mitochondria/metabolism ; Adenosine Triphosphate/metabolism
    Chemical Substances Superoxides (11062-77-4) ; Actins ; Adenosine Triphosphate (8L70Q75FXE)
    Language English
    Publishing date 2023-02-14
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural
    ZDB-ID 1493-x
    ISSN 1090-2422 ; 0014-4827
    ISSN (online) 1090-2422
    ISSN 0014-4827
    DOI 10.1016/j.yexcr.2023.113507
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    Zs.A 563: Show issues Location:
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  7. Article ; Online: Characterization of NEB pathogenic variants in patients reveals novel nemaline myopathy disease mechanisms and omecamtiv mecarbil force effects.

    Karimi, Esmat / Gohlke, Jochen / van der Borgh, Mila / Lindqvist, Johan / Hourani, Zaynab / Kolb, Justin / Cossette, Stacy / Lawlor, Michael W / Ottenheijm, Coen / Granzier, Henk

    Acta neuropathologica

    2024  Volume 147, Issue 1, Page(s) 72

    Abstract: Nebulin, a critical protein of the skeletal muscle thin filament, plays important roles in physiological processes such as regulating thin filament length (TFL), cross-bridge cycling, and myofibril alignment. Pathogenic variants in the nebulin gene (NEB) ...

    Abstract Nebulin, a critical protein of the skeletal muscle thin filament, plays important roles in physiological processes such as regulating thin filament length (TFL), cross-bridge cycling, and myofibril alignment. Pathogenic variants in the nebulin gene (NEB) cause NEB-based nemaline myopathy (NEM2), a genetically heterogeneous disorder characterized by hypotonia and muscle weakness, currently lacking curative therapies. In this study, we examined a cohort of ten NEM2 patients, each with unique pathogenic variants, aiming to understand their impact on mRNA, protein, and functional levels. Results show that pathogenic truncation variants affect NEB mRNA stability and lead to nonsense-mediated decay of the mutated transcript. Moreover, a high incidence of cryptic splice site activation was found in patients with pathogenic splicing variants that are expected to disrupt the actin-binding sites of nebulin. Determination of protein levels revealed patients with either relatively normal or markedly reduced nebulin. We observed a positive relation between the reduction in nebulin and a reduction in TFL, or reduction in tension (both maximal and submaximal tension). Interestingly, our study revealed a pathogenic duplication variant in nebulin that resulted in a four-copy gain in the triplicate region of NEB and a much larger nebulin protein and longer TFL. Additionally, we investigated the effect of Omecamtiv mecarbil (OM), a small-molecule activator of cardiac myosin, on force production of type 1 muscle fibers of NEM2 patients. OM treatment substantially increased submaximal tension across all NEM2 patients ranging from 87 to 318%, with the largest effects in patients with the lowest level of nebulin. In summary, this study indicates that post-transcriptional or post-translational mechanisms regulate nebulin expression. Moreover, we propose that the pathomechanism of NEM2 involves not only shortened but also elongated thin filaments, along with the disruption of actin-binding sites resulting from pathogenic splicing variants. Significantly, our findings highlight the potential of OM treatment to improve skeletal muscle function in NEM2 patients, especially those with large reductions in nebulin levels.
    MeSH term(s) Humans ; Actins ; Muscle Weakness ; Muscle, Skeletal/drug effects ; Muscle, Skeletal/metabolism ; Muscle, Skeletal/pathology ; Myopathies, Nemaline/drug therapy ; Myopathies, Nemaline/genetics ; Myopathies, Nemaline/pathology ; Urea/analogs & derivatives ; Muscle Proteins/genetics ; Muscle Proteins/metabolism
    Chemical Substances Actins ; omecamtiv mecarbil (2M19539ERK) ; Urea (8W8T17847W) ; nebulin (02X6KNJ5EE) ; Muscle Proteins
    Language English
    Publishing date 2024-04-18
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 1079-0
    ISSN 1432-0533 ; 0001-6322
    ISSN (online) 1432-0533
    ISSN 0001-6322
    DOI 10.1007/s00401-024-02726-w
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    Ui II Zs.188: Show issues Location:
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  8. Article ; Online: Anaplasia and age of onset in desmoplastic infantile ganglioglioma: Case report and review of the literature.

    Watson, Christopher J G / Lawlor, Mitchell / Sy, Joanne / Krishnaswamy, Mrudula / Buckland, Michael E / Brennan, Jeffrey W / Satgunaseelan, Laveniya

    Pediatric blood & cancer

    2022  Volume 70, Issue 1, Page(s) e29808

    MeSH term(s) Humans ; Infant ; Ganglioglioma ; Anaplasia ; Age of Onset ; Brain Neoplasms ; Magnetic Resonance Imaging
    Language English
    Publishing date 2022-06-07
    Publishing country United States
    Document type Review ; Case Reports ; Letter
    ZDB-ID 2131448-2
    ISSN 1545-5017 ; 1545-5009
    ISSN (online) 1545-5017
    ISSN 1545-5009
    DOI 10.1002/pbc.29808
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    Zs.A 1131: Show issues Location:
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  9. Article: Characterization of

    Karimi, Esmat / van der Borgh, Mila / Lindqvist, Johan / Gohlke, Jochen / Hourani, Zaynab / Kolb, Justin / Cossette, Stacy / Lawlor, Michael W / Ottenheijm, Coen / Granzier, Henk

    bioRxiv : the preprint server for biology

    2023  

    Abstract: Nebulin, a critical protein of the skeletal muscle thin filament, plays important roles in physiological processes such as regulating thin filament length (TFL), cross-bridge cycling, and myofibril alignment. Mutations in the nebulin gene ( ...

    Abstract Nebulin, a critical protein of the skeletal muscle thin filament, plays important roles in physiological processes such as regulating thin filament length (TFL), cross-bridge cycling, and myofibril alignment. Mutations in the nebulin gene (
    Language English
    Publishing date 2023-12-21
    Publishing country United States
    Document type Preprint
    DOI 10.1101/2023.12.20.572678
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  10. Article ; Online: Presentation and Diagnostic Evaluation of Mitochondrial Disease.

    Dimmock, David P / Lawlor, Michael W

    Pediatric clinics of North America

    2016  Volume 64, Issue 1, Page(s) 161–171

    Abstract: Mitochondrial disease (MD) occurs when alteration of mitochondrial respiratory chain complex function caused by genetic mutation produces a detectable disease state. These mutations may be found in either the nuclear or mitochondrial genomes, and may ... ...

    Abstract Mitochondrial disease (MD) occurs when alteration of mitochondrial respiratory chain complex function caused by genetic mutation produces a detectable disease state. These mutations may be found in either the nuclear or mitochondrial genomes, and may only be present in a subset of cells or body tissues. Thus, the phenotype of MD is extremely variable and the definitive diagnosis of MD is complex. This article provides a brief description of a strategy used in the diagnosis of MD, by integrating data from clinical, imaging, pathologic, molecular, and enzymatic assessments. Additional information on characteristic findings seen in classic MD syndromes is also provided.
    MeSH term(s) Biomarkers/analysis ; Child ; Diagnosis, Differential ; Genome, Human ; Humans ; Mitochondrial Diseases/diagnosis ; Mitochondrial Diseases/genetics ; Mutation ; Phenotype ; Rare Diseases/diagnosis ; Rare Diseases/genetics ; Syndrome
    Chemical Substances Biomarkers
    Language English
    Publishing date 2016-11-29
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 215711-1
    ISSN 1557-8240 ; 0031-3955
    ISSN (online) 1557-8240
    ISSN 0031-3955
    DOI 10.1016/j.pcl.2016.08.011
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