Results 11 to 20 of about 11,333 (226)

Dysregulated synaptic gene expression in oligodendrocytes of spinal and bulbar muscular atrophy [PDF]

JCI Insight
Spinal and bulbar muscular atrophy (SBMA) is a neuromuscular disease caused by an expanded CAG repeat in the androgen receptor (AR) gene. To elucidate the cell type–specific temporal gene expression in SBMA, we performed single-nucleus RNA sequencing on ...
Madoka Iida, Kentaro Sahashi, Tomoki Hirunagi, Kenji Sakakibara, Kentaro Maeda, Yohei Iguchi, Jiayi Li, Yosuke Ogura, Masaki Iizuka, Tomohiro Akashi, Kunihiko Hinohara, Shouta Sugio, Hiroaki Wake, Masahiro Nakatochi, Masahisa Katsuno   +14 more
doaj   +2 more sources

Exercise attenuates polyglutamine‐mediated neuromuscular degeneration in a mouse model of spinal and bulbar muscular atrophy [PDF]

Journal of Cachexia, Sarcopenia and Muscle
Background Spinal and bulbar muscular atrophy (SBMA) is a hereditary neuromuscular disorder caused by the expansion of trinucleotide cytosine–adenine–guanine (CAG) repeats, which encodes a polyglutamine (polyQ) tract in the androgen receptor (AR) gene ...
Tomoki Hirunagi, Hideaki Nakatsuji, Kentaro Sahashi, Mikiyasu Yamamoto, Madoka Iida, Genki Tohnai, Naohide Kondo, Shinichiro Yamada, Ayuka Murakami, Seiya Noda, Hiroaki Adachi, Gen Sobue, Masahisa Katsuno   +12 more
doaj   +2 more sources

Stem cell-derived motor neurons from spinal and bulbar muscular atrophy patients

Neurobiology of Disease, 2014
Spinal and bulbar muscular atrophy (SBMA, Kennedy's disease) is a motor neuron disease caused by polyglutamine repeat expansion in the androgen receptor.
Christopher Grunseich, Kristen Zukosky, Ilona R. Kats, Laboni Ghosh, George G. Harmison, Laura C. Bott, Carlo Rinaldi, Ke-lian Chen, Guibin Chen, Manfred Boehm, Kenneth H. Fischbeck   +10 more
doaj   +3 more sources

Differentially disrupted spinal cord and muscle energy metabolism in spinal and bulbar muscular atrophy [PDF]

JCI Insight
Prior studies showed that polyglutamine-expanded androgen receptor (AR) is aberrantly acetylated and that deacetylation of the mutant AR by overexpression of nicotinamide adenine dinucleotide–dependent (NAD+-dependent) sirtuin 1 is protective in cell ...
Danielle DeBartolo, Frederick J. Arnold, Yuhong Liu, Elana Molotsky, Hsin-Yao Tang, Diane E. Merry   +5 more
doaj   +2 more sources

Targeting the mutant androgen receptor with PROTACs in spinal and bulbar muscular atrophy [PDF]

Neurotherapeutics
Changwoo Lee, Janghoo Lim
doaj   +2 more sources

Spinal and Bulbar Muscular Atrophy [PDF]

Neurologic Clinics, 2015
Spinal and bulbar muscular atrophy, or Kennedy disease, is a slowly progressive X-linked neuromuscular disease caused by a trinucleotide (CAG) repeat expansion in the androgen receptor gene. Affected males typically develop weakness in their mid-40s as well as evidence of androgen insensitivity with reduced fertility and gynecomastia.
Christopher, Grunseich, Kenneth H, Fischbeck   +1 more
openaire   +2 more sources

Anesthetic management of a child with spinal muscular atrophy

Amrita Journal of Medicine, 2023
Spinal muscular atrophy (SMA) is a rare autosomal disorder associated with degeneration of motor neurons. Bulbar dysfunction predisposes to aspiration. We present the anesthetic management of a child with SMA managed with general anesthesia and abdominal
Dimple E Thomas, Geethu Sebastian, Joel Irimpan, Lakshmi Kumar   +3 more
doaj   +1 more source

Label-free morphology-based phenotypic analysis of spinal and bulbar muscular atrophy muscle cell models [PDF]

Disease Models & Mechanisms
Kenji Sakakibara, Kenjiro Tanaka, Madoka Iida, Yuta Imai, Mai Okada, Kentaro Sahashi, Tomoki Hirunagi, Kentaro Maeda, Ryuji Kato, Masahisa Katsuno   +9 more
doaj   +2 more sources

Clinical features of spinal and bulbar muscular atrophy [PDF]

Brain, 2009
Spinal and bulbar muscular atrophy is an X-linked motor neuron disease caused by a CAG repeat expansion in the androgen receptor gene. To characterize the natural history and define outcome measures for clinical trials, we assessed the clinical history, laboratory findings and muscle strength and function in 57 patients with genetically confirmed ...
Rhodes, Lindsay E., Freeman, Brandi K., Auh, Sungyoung, Kokkinis, Angela D., La Pean, Alison, Chen, Cheunju, Lehky, Tanya J., Shrader, Joseph A., Levy, Ellen W., Harris-Love, Michael, Di Prospero, Nicholas A., Fischbeck, Kenneth H.   +11 more
openaire   +2 more sources

Sporadic Spinal-Onset Amyotrophic Lateral Sclerosis Associated with Myopathy in Three Unrelated Portuguese Patients

Brain Sciences, 2023
Amyotrophic lateral sclerosis (ALS) and myopathy have been already described as part of a common genetic syndrome called multisystem proteinopathy. They may occur together or not, and can be associated with other clinical features such as frontotemporal ...
Miguel Oliveira Santos, Marta Gromicho, Ana Pronto-Laborinho, Mamede de Carvalho   +3 more
doaj   +1 more source