Bulbo-Spinal Atrophy, X-Linked

"Bulbo-Spinal Atrophy, X-Linked" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

An X-linked recessive form of spinal muscular atrophy. It is due to a mutation of the gene encoding the ANDROGEN RECEPTOR.

Descriptor ID	D055534
MeSH Number(s)	C10.228.854.468.399 C10.574.500.175 C10.574.562.500.374 C10.668.467.500.186 C16.320.322.076
Concept/Terms	Bulbo-Spinal Atrophy, X-Linked Bulbo-Spinal Atrophy, X-Linked Atrophies, X-Linked Bulbo-Spinal Atrophy, X-Linked Bulbo-Spinal Bulbo Spinal Atrophy, X Linked Bulbo-Spinal Atrophies, X-Linked X-Linked Bulbo-Spinal Atrophies Kennedy Disease Disease, Kennedy Kennedy Spinal and Bulbar Muscular Atrophy Kennedy Syndrome Syndrome, Kennedy X-Linked Bulbo-Spinal Atrophy X Linked Bulbo Spinal Atrophy X-linked Bulbospinal Muscular Atrophy X linked Bulbospinal Muscular Atrophy Kennedy's Disease Disease, Kennedy's Kennedys Disease X-Linked Spinal and Bulbar Muscular Atrophy X Linked Spinal and Bulbar Muscular Atrophy Bulbospinal Muscular Atrophy, X-linked Bulbospinal Muscular Atrophy, X linked Spinal And Bulbar Muscular Atrophy, X-Linked 1 Spinal And Bulbar Muscular Atrophy, X Linked 1

Below are MeSH descriptors whose meaning is more general than "Bulbo-Spinal Atrophy, X-Linked".

Diseases [C]
Nervous System Diseases [C10]
Central Nervous System Diseases [C10.228]
Spinal Cord Diseases [C10.228.854]
Muscular Atrophy, Spinal [C10.228.854.468]
Bulbo-Spinal Atrophy, X-Linked [C10.228.854.468.399]
Neurodegenerative Diseases [C10.574]
Heredodegenerative Disorders, Nervous System [C10.574.500]
Bulbo-Spinal Atrophy, X-Linked [C10.574.500.175]
Motor Neuron Disease [C10.574.562]
Muscular Atrophy, Spinal [C10.574.562.500]
Bulbo-Spinal Atrophy, X-Linked [C10.574.562.500.374]
Neuromuscular Diseases [C10.668]
Motor Neuron Disease [C10.668.467]
Muscular Atrophy, Spinal [C10.668.467.500]
Bulbo-Spinal Atrophy, X-Linked [C10.668.467.500.186]
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Genetic Diseases, Inborn [C16.320]
Genetic Diseases, X-Linked [C16.320.322]
Bulbo-Spinal Atrophy, X-Linked [C16.320.322.076]

Below are MeSH descriptors whose meaning is related to "Bulbo-Spinal Atrophy, X-Linked".

Below are MeSH descriptors whose meaning is more specific than "Bulbo-Spinal Atrophy, X-Linked".

publications

Timeline | Most Recent

This graph shows the total number of publications written about "Bulbo-Spinal Atrophy, X-Linked" by people in this website by year, and whether "Bulbo-Spinal Atrophy, X-Linked" was a major or minor topic of these publications.

Bar chart showing 17 publications over 13 distinct years, with a maximum of 3 publications in 2024

To see the data from this visualization as text, click here.

Year	Major Topic	Minor Topic	Total
2009	1	0	1
2010	0	1	1
2011	1	0	1
2012	1	0	1
2014	1	0	1
2015	2	0	2
2016	1	0	1
2018	0	1	1
2019	2	0	2
2021	1	0	1
2022	1	0	1
2023	1	0	1
2024	2	1	3

Below are the most recent publications written about "Bulbo-Spinal Atrophy, X-Linked" by people in Profiles.

Lisberg A, Liu Y, Merry DE. Blocking the dimerization of polyglutamine-expanded androgen receptor protects cells from DHT-induced toxicity by increasing AR turnover. J Biol Chem. 2024 05; 300(5):107246.

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DeBartolo D, Arnold FJ, Liu Y, Molotsky E, Tang HY, Merry DE. Differentially disrupted spinal cord and muscle energy metabolism in spinal and bulbar muscular atrophy. JCI Insight. 2024 03 05; 9(7).

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Richardson K, Sengupta M, Sujkowski A, Libohova K, Harris AC, Wessells R, Merry DE, Todi SV. A phenotypically robust model of spinal and bulbar muscular atrophy in Drosophila. J Neurosci Res. 2024 01; 102(1):e25278.

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Galbiati M, Meroni M, Boido M, Cescon M, Rusmini P, Crippa V, Cristofani R, Piccolella M, Ferrari V, Tedesco B, Casarotto E, Chierichetti M, Cozzi M, Mina F, Cicardi ME, Pedretti S, Mitro N, Caretto A, Ris? P, Sala A, Lieberman AP, Bonaldo P, Pennuto M, Vercelli A, Poletti A. Bicalutamide and Trehalose Ameliorate Spinal and Bulbar Muscular Atrophy Pathology in Mice. Neurotherapeutics. 2023 03; 20(2):524-545.

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Molotsky E, Liu Y, Lieberman AP, Merry DE. Neuromuscular junction pathology is correlated with differential motor unit vulnerability in spinal and bulbar muscular atrophy. Acta Neuropathol Commun. 2022 07 05; 10(1):97.

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Pluciennik A, Liu Y, Molotsky E, Marsh GB, Ranxhi B, Arnold FJ, St-Cyr S, Davidson B, Pourshafie N, Lieberman AP, Gu W, Todi SV, Merry DE. Deubiquitinase USP7 contributes to the pathogenicity of spinal and bulbar muscular atrophy. J Clin Invest. 2021 01 04; 131(1).

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Arnold FJ, Merry DE. Molecular Mechanisms and Therapeutics for SBMA/Kennedy's Disease. Neurotherapeutics. 2019 10; 16(4):928-947.

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Arnold FJ, Pluciennik A, Merry DE. Impaired Nuclear Export of Polyglutamine-Expanded Androgen Receptor in Spinal and Bulbar Muscular Atrophy. Sci Rep. 2019 01 15; 9(1):119.

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Rusmini P, Cortese K, Crippa V, Cristofani R, Cicardi ME, Ferrari V, Vezzoli G, Tedesco B, Meroni M, Messi E, Piccolella M, Galbiati M, Garr? M, Morelli E, Vaccari T, Poletti A. Trehalose induces autophagy via lysosomal-mediated TFEB activation in models of motoneuron degeneration. Autophagy. 2019 04; 15(4):631-651.

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Bott LC, Salomons FA, Maric D, Liu Y, Merry D, Fischbeck KH, Dantuma NP. The polyglutamine-expanded androgen receptor responsible for spinal and bulbar muscular atrophy inhibits the APC/C(Cdh1) ubiquitin ligase complex. Sci Rep. 2016 06 17; 6:27703.

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