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Article ; Online: A Positron Emission Tomography Ligand for Mutant Huntingtin Sheds Light on Disease.

Lieberman, Andrew P / Albin, Roger L

Movement disorders : official journal of the Movement Disorder Society

2022 Volume 37, Issue 5, Page(s) 893

MeSH term(s)	Humans ; Huntingtin Protein/genetics ; Huntington Disease ; Ligands ; Mutation/genetics ; Positron-Emission Tomography/methods
Chemical Substances	Huntingtin Protein ; Ligands
Language	English
Publishing date	2022-04-09
Publishing country	United States
Document type	Journal Article ; Comment
ZDB-ID	607633-6
ISSN	1531-8257 ; 0885-3185
ISSN (online)	1531-8257
ISSN	0885-3185
DOI	10.1002/mds.29019
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Zs.A 2555: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (2.OG) ab Jg. 2022: Lesesaal (EG)
Zs.MO 238: Show issues

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Article: Spinal and bulbar muscular atrophy.

Lieberman, Andrew P

Handbook of clinical neurology

2018 Volume 148, Page(s) 625–632

Abstract: Spinal and bulbar muscular atrophy (SBMA) is an adult-onset degenerative disorder of the neuromuscular system resulting in slowly progressive weakness and atrophy of the proximal limb and bulbar muscles. The disease is caused by the expansion of a CAG/ ... ...

Abstract	Spinal and bulbar muscular atrophy (SBMA) is an adult-onset degenerative disorder of the neuromuscular system resulting in slowly progressive weakness and atrophy of the proximal limb and bulbar muscles. The disease is caused by the expansion of a CAG/glutamine tract in the amino-terminus of the androgen receptor. That SBMA exclusively affects males reflects the fact that critical pathogenic events are hormone-dependent. These include translocation of the polyglutamine androgen receptor from the cytoplasm to the nucleus and unfolding of the mutant protein. Studies of the pathology of SBMA subjects have revealed nuclear aggregates of the mutant androgen receptor, loss of lower motor neurons in the brainstem and spinal cord, and both neurogenic and myopathic changes in skeletal muscle. Mechanisms underlying disease pathogenesis include toxicity in both lower motor neurons and skeletal muscle, where effects on transcription, intracellular transport, and mitochondrial function have been documented. Therapies to treat SBMA patients remain largely supportive, although experimental approaches targeting androgen action or promoting degradation of the mutant androgen receptor protein or the encoding RNA are under active study.
MeSH term(s)	Animals ; Brain Stem/pathology ; Disease Models, Animal ; Humans ; Motor Neurons/pathology ; Muscular Atrophy, Spinal/genetics ; Muscular Atrophy, Spinal/pathology ; Peptides/genetics ; Receptors, Androgen/genetics ; Spinal Cord/pathology
Chemical Substances	Peptides ; Receptors, Androgen ; polyglutamine (26700-71-0)
Language	English
Publishing date	2018
Publishing country	Netherlands
Document type	Journal Article ; Review
ISSN	0072-9752
ISSN	0072-9752
DOI	10.1016/B978-0-444-64076-5.00040-5
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Article ; Online: Neuromuscular junction pathology is correlated with differential motor unit vulnerability in spinal and bulbar muscular atrophy.

Molotsky, Elana / Liu, Yuhong / Lieberman, Andrew P / Merry, Diane E

Acta neuropathologica communications

2022 Volume 10, Issue 1, Page(s) 97

Abstract: Spinal and bulbar muscular atrophy (SBMA) is an X-linked, neuromuscular neurodegenerative disease for which there is no cure. The disease is characterized by a selective decrease in fast-muscle power (e.g., tongue pressure, grip strength) accompanied by ... ...

Abstract	Spinal and bulbar muscular atrophy (SBMA) is an X-linked, neuromuscular neurodegenerative disease for which there is no cure. The disease is characterized by a selective decrease in fast-muscle power (e.g., tongue pressure, grip strength) accompanied by a selective loss of fast-twitch muscle fibers. However, the relationship between neuromuscular junction (NMJ) pathology and fast-twitch motor unit vulnerability has yet to be explored. In this study, we used a cross-model comparison of two mouse models of SBMA to evaluate neuromuscular junction pathology, glycolytic-to-oxidative fiber-type switching, and cytoskeletal alterations in pre- and postsynaptic termini of tibialis anterior (TA), gastrocnemius, and soleus hindlimb muscles. We observed significantly increased NMJ and myofiber pathology in fast-twitch, glycolytic motor units of the TA and gastrocnemius compared to slow-twitch, oxidative motor units of the soleus, as seen by decreased pre- and post-synaptic membrane area, decreased pre- and post-synaptic membrane colocalization, increased acetylcholine receptor compactness, a decrease in endplate area and complexity, and deficits in neurofilament heavy chain. Our data also show evidence for metabolic dysregulation and myofiber atrophy that correlate with severity of NMJ pathology. We propose a model in which the dynamic communicative relationship between the motor neuron and muscle, along with the developmental subtype of the muscle, promotes motor unit subtype specific vulnerability, metabolic alterations, and NMJ pathology.
MeSH term(s)	Animals ; Bulbo-Spinal Atrophy, X-Linked/metabolism ; Bulbo-Spinal Atrophy, X-Linked/pathology ; Mice ; Muscle, Skeletal/pathology ; Muscular Atrophy/metabolism ; Neurodegenerative Diseases/pathology ; Neuromuscular Junction/metabolism ; Pressure ; Tongue/metabolism
Language	English
Publishing date	2022-07-05
Publishing country	England
Document type	Journal Article ; Research Support, N.I.H., Extramural
ZDB-ID	2715589-4
ISSN	2051-5960 ; 2051-5960
ISSN (online)	2051-5960
ISSN	2051-5960
DOI	10.1186/s40478-022-01402-y
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Article ; Online: Spinal and bulbar muscular atrophy: From molecular pathogenesis to pharmacological intervention targeting skeletal muscle.

Marchioretti, Caterina / Andreotti, Roberta / Zuccaro, Emanuela / Lieberman, Andrew P / Basso, Manuela / Pennuto, Maria

Current opinion in pharmacology

2023 Volume 71, Page(s) 102394

Abstract: The clinical characteristics of SBMA, also known as Kennedy's disease (OMIM 313200), were initially documented by Dr. H Kawahara in the 18th century and a hundred years later by Dr. W. Kennedy. SBMA is a neuromuscular disease caused by expansions of a ... ...

Abstract	The clinical characteristics of SBMA, also known as Kennedy's disease (OMIM 313200), were initially documented by Dr. H Kawahara in the 18th century and a hundred years later by Dr. W. Kennedy. SBMA is a neuromuscular disease caused by expansions of a CAG microsatellite tandem repeat in exon 1 of the androgen receptor (AR) gene located on the X chromosome. These expansions result in the production of AR with an aberrantly expanded polyglutamine (polyQ) tract. In this review, we explore recent advancements in the significance of gene expression changes in skeletal muscle and discuss how pharmacological interventions targeting this aspect of disease pathogenesis can potentially be translated into therapies for SBMA patients.
MeSH term(s)	Humans ; Bulbo-Spinal Atrophy, X-Linked/drug therapy ; Bulbo-Spinal Atrophy, X-Linked/genetics ; Bulbo-Spinal Atrophy, X-Linked/metabolism ; Receptors, Androgen/genetics ; Receptors, Androgen/metabolism ; Receptors, Androgen/therapeutic use ; Muscle, Skeletal/metabolism ; Muscular Atrophy
Chemical Substances	Receptors, Androgen
Language	English
Publishing date	2023-07-16
Publishing country	England
Document type	Journal Article ; Review ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	2037057-X
ISSN	1471-4973 ; 1471-4892
ISSN (online)	1471-4973
ISSN	1471-4892
DOI	10.1016/j.coph.2023.102394
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Zs.A 5608: Show issues

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ab Jg. 2022: Lesesaal (EG)

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Article ; Online: High Cholesterol at the Heart of Phagolysosomal Damage.

Lieberman, Andrew P / Swanson, Joel A

Cell metabolism

2018 Volume 27, Issue 3, Page(s) 487–488

Abstract: Phagolysosome membrane rupture can trigger a maladaptive immune response that promotes tissue damage. In Science, Cantuti-Castelvetri et al. (2018) report that cholesterol-rich myelin debris overwhelms reverse cholesterol transport in aged phagocytes, ... ...

Abstract	Phagolysosome membrane rupture can trigger a maladaptive immune response that promotes tissue damage. In Science, Cantuti-Castelvetri et al. (2018) report that cholesterol-rich myelin debris overwhelms reverse cholesterol transport in aged phagocytes, leading to cholesterol crystal formation, damaged phagolysosomes, and limited tissue repair.
MeSH term(s)	Central Nervous System ; Cholesterol ; Myelin Sheath ; Phagosomes ; Remyelination
Chemical Substances	Cholesterol (97C5T2UQ7J)
Language	English
Publishing date	2018-03-20
Publishing country	United States
Document type	Journal Article ; Comment
ZDB-ID	2176834-1
ISSN	1932-7420 ; 1550-4131
ISSN (online)	1932-7420
ISSN	1550-4131
DOI	10.1016/j.cmet.2018.02.015
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Zs.A 6169: Show issues

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Article ; Online: The intersection of lysosomal and endoplasmic reticulum calcium with autophagy defects in lysosomal diseases.

Liu, Elaine A / Lieberman, Andrew P

Neuroscience letters

2018 Volume 697, Page(s) 10–16

Abstract: The lysosomal storage disorders (LSDs) encompass a group of more than 50 inherited diseases characterized by the accumulation of lysosomal substrates. Two-thirds of patients experience significant neurological symptoms, but the mechanisms of ... ...

Abstract	The lysosomal storage disorders (LSDs) encompass a group of more than 50 inherited diseases characterized by the accumulation of lysosomal substrates. Two-thirds of patients experience significant neurological symptoms, but the mechanisms of neurodegeneration are not well understood. Interestingly, a wide range of LSDs show defects in both autophagy and Ca
MeSH term(s)	Animals ; Autophagy/physiology ; Biological Transport ; Calcium/metabolism ; Endoplasmic Reticulum/metabolism ; Homeostasis ; Humans ; Lysosomal Storage Diseases/metabolism ; Lysosomal Storage Diseases/pathology ; Lysosomes/metabolism
Chemical Substances	Calcium (SY7Q814VUP)
Language	English
Publishing date	2018-04-25
Publishing country	Ireland
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	194929-9
ISSN	1872-7972 ; 0304-3940
ISSN (online)	1872-7972
ISSN	0304-3940
DOI	10.1016/j.neulet.2018.04.049
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Zs.A 1166: Show issues

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Jg. 1995 - 2021: Lesesall (1.OG)
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Article ; Online: Truth and transparency in a time of crisis.

Collins, Kathleen L / Markel, Howard / Lieberman, Andrew P

JCI insight

2020 Volume 5, Issue 6

Abstract: Lessons from history underline the importance of having direct lines of communication to and from public health officials, who must remain free from policital bias in times of crisis. ...

Abstract	Lessons from history underline the importance of having direct lines of communication to and from public health officials, who must remain free from policital bias in times of crisis.
MeSH term(s)	COVID-19 ; History, 20th Century ; Humans ; Influenza Pandemic, 1918-1919/history ; Public Health/history ; SARS-CoV-2 ; Truth Disclosure
Language	English
Publishing date	2020-03-17
Publishing country	United States
Document type	Editorial ; Historical Article
ISSN	2379-3708
ISSN (online)	2379-3708
DOI	10.1172/jci.insight.138132
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Article ; Online: TDP-43 proteinopathy occurs independently of autophagic substrate accumulation and underlies nuclear defects in Niemann-Pick C disease.

Liu, Elaine A / Mori, Erika / Hamasaki, Fuko / Lieberman, Andrew P

Neuropathology and applied neurobiology

2021 Volume 47, Issue 7, Page(s) 1019–1032

Abstract: Aims: Neuronal cytoplasmic inclusions of TAR-DNA binding protein of 43 kDa (TDP-43) are a pathological hallmark of diverse neurodegenerative disorders, yet the processes that mediate their formation and their functional significance remain incompletely ... ...

Abstract	Aims: Neuronal cytoplasmic inclusions of TAR-DNA binding protein of 43 kDa (TDP-43) are a pathological hallmark of diverse neurodegenerative disorders, yet the processes that mediate their formation and their functional significance remain incompletely understood. Both dysfunction in autophagy and neuroinflammation have been linked to TDP-43 mislocalisation. Here, we investigate TDP-43 proteinopathy in Niemann-Pick type C disease (NPC), an autosomal recessive lysosomal storage disease (LSD) distinguished by the accumulation of unesterified cholesterol within late endosomes and lysosomes. NPC is characterised by neurodegeneration, neuroinflammation and multifocal disruption of the autophagy pathway. Methods: We utilised immunohistochemistry, confocal microscopy, electron microscopy and biochemical and gene expression studies to characterise TDP-43 pathology and autophagic substrate accumulation in Npc1-deficient mice. Results: In the NPC brain, cytoplasmic TDP-43 mislocalisation was independent of autophagic substrate accumulation. These pathologies occurred in distinct neuronal subtypes, as brainstem cholinergic neurons were more susceptible to TDP-43 mislocalisation, whereas glutamatergic neurons exhibited hallmarks of autophagic dysfunction. Furthermore, TDP-43 mislocalisation did not co-localise with markers of stress granules or progress to ubiquitinated aggregates over months in vivo, indicating a stable, early stage in the aggregation process. Neither microgliosis nor neuroinflammation were sufficient to drive TDP-43 proteinopathy in the NPC brain. Notably, cytoplasmic TDP-43 co-localised with the nuclear import factor importin α, and TDP-43 mislocalised neurons demonstrated nuclear membrane abnormalities and disruption of nucleocytoplasmic transport. Conclusion: Our findings highlight the relationship between LSDs and TDP-43 proteinopathy, define its functional importance in NPC by triggering nuclear dysfunction, and expand the spectrum of TDP-43 pathology in the diseased brain.
MeSH term(s)	Animals ; Autophagy/genetics ; Brain/pathology ; DNA-Binding Proteins/genetics ; DNA-Binding Proteins/metabolism ; Intracellular Signaling Peptides and Proteins/metabolism ; Lysosomes/metabolism ; Mice ; Neuroinflammatory Diseases/genetics ; Neuroinflammatory Diseases/metabolism ; Neuroinflammatory Diseases/pathology ; Neurons/pathology ; Niemann-Pick Disease, Type C/genetics ; Niemann-Pick Disease, Type C/metabolism ; Niemann-Pick Disease, Type C/pathology ; TDP-43 Proteinopathies/genetics ; TDP-43 Proteinopathies/metabolism
Chemical Substances	DNA-Binding Proteins ; Intracellular Signaling Peptides and Proteins ; TDP-43 protein, mouse
Language	English
Publishing date	2021-06-15
Publishing country	England
Document type	Journal Article ; Research Support, N.I.H., Extramural
ZDB-ID	80371-6
ISSN	1365-2990 ; 0305-1846
ISSN (online)	1365-2990
ISSN	0305-1846
DOI	10.1111/nan.12738
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Zs.A 1241: Show issues

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Article: The Ubiquitination, Disaggregation and Proteasomal Degradation Machineries in Polyglutamine Disease.

Nath, Samir R / Lieberman, Andrew P

Frontiers in molecular neuroscience

2017 Volume 10, Page(s) 78

Abstract: Polyglutamine disorders are chronic, progressive neurodegenerative diseases caused by expansion of a glutamine tract in widely expressed genes. Despite excellent models of disease, a well-documented clinical history and progression, and established ... ...

Abstract	Polyglutamine disorders are chronic, progressive neurodegenerative diseases caused by expansion of a glutamine tract in widely expressed genes. Despite excellent models of disease, a well-documented clinical history and progression, and established genetic causes, there are no FDA approved, disease modifying treatments for these disorders. Downstream of the mutant protein, several divergent pathways of toxicity have been identified over the last several decades, supporting the idea that targeting only one of these pathways of toxicity is unlikely to robustly alleviate disease progression. As a result, a vast body of research has focused on eliminating the mutant protein to broadly prevent downstream toxicity, either by silencing mutant protein expression or leveraging the endogenous protein quality control machinery. In the latter approach, a focus has been placed on four critical components of mutant protein degradation that are active in the nucleus, a key site of toxicity: disaggregation, ubiquitination, deubiquitination, and proteasomal activity. These machineries have unique functional components, but work together as a cellular defense system that can be successfully leveraged to alleviate disease phenotypes in several models of polyglutamine toxicity. This review will highlight recent advances in understanding both the potential and role of these components of the protein quality control machinery in polyglutamine disease pathophysiology.
Language	English
Publishing date	2017-03-22
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2452967-9
ISSN	1662-5099
ISSN	1662-5099
DOI	10.3389/fnmol.2017.00078
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Article ; Online: The cholesterol transporter NPC1 is essential for epigenetic regulation and maturation of oligodendrocyte lineage cells.

Kunkel, Thaddeus J / Townsend, Alice / Sullivan, Kyle A / Merlet, Jean / Schuchman, Edward H / Jacobson, Daniel A / Lieberman, Andrew P

Nature communications

2023 Volume 14, Issue 1, Page(s) 3964

Abstract: The intracellular cholesterol transporter NPC1 functions in late endosomes and lysosomes to efflux unesterified cholesterol, and its deficiency causes Niemann-Pick disease Type C, an autosomal recessive lysosomal disorder characterized by progressive ... ...

Abstract	The intracellular cholesterol transporter NPC1 functions in late endosomes and lysosomes to efflux unesterified cholesterol, and its deficiency causes Niemann-Pick disease Type C, an autosomal recessive lysosomal disorder characterized by progressive neurodegeneration and early death. Here, we use single-nucleus RNA-seq on the forebrain of Npc1
MeSH term(s)	Animals ; Mice ; Cell Lineage ; Cholesterol/metabolism ; Epigenesis, Genetic ; Membrane Transport Proteins/metabolism ; Niemann-Pick Disease, Type C/genetics ; Niemann-Pick Disease, Type C/metabolism ; Oligodendroglia/metabolism
Chemical Substances	Cholesterol (97C5T2UQ7J) ; Membrane Transport Proteins ; Npc1 protein, mouse
Language	English
Publishing date	2023-07-05
Publishing country	England
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, Non-P.H.S.
ZDB-ID	2553671-0
ISSN	2041-1723 ; 2041-1723
ISSN (online)	2041-1723
ISSN	2041-1723
DOI	10.1038/s41467-023-39733-6
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