Results 11 to 20 of about 253,124 (183)

A Comprehensive NMR Analysis of Serum and Fecal Metabolites in Familial Dysautonomia Patients Reveals Significant Metabolic Perturbations [PDF]

Metabolites, 2023
Central metabolism has a profound impact on the clinical phenotypes and penetrance of neurological diseases such as Alzheimer’s (AD) and Parkinson’s (PD) diseases, Amyotrophic Lateral Sclerosis (ALS) and Autism Spectrum Disorder (ASD). In contrast to the
Stephanann M. Costello, Alexandra M. Cheney, Annie Waldum, Brian Tripet, Maria Cotrina-Vidal, Horacio Kaufmann, Lucy Norcliffe-Kaufmann, Frances Lefcort, Valérie Copié   +8 more
doaj   +3 more sources

Therapeutic manipulation of IKBKAP mis-splicing with a small molecule to cure familial dysautonomia [PDF]

Nature Communications, 2021
Familial dysautonomia is caused by splicing mutation of IKBKAP gene, which induces skipping of exon 20 and subsequent functional loss. Here, the authors report that a synthetic splice modulator RECTAS ameliorates pathogenic exon 20 skipping and shows ...
Masahiko Ajiro, Tomonari Awaya, Young Jin Kim, Kei Iida, Masatsugu Denawa, Nobuo Tanaka, Ryo Kurosawa, Shingo Matsushima, Saiko Shibata, Tetsunori Sakamoto, Rolenz Studer, Adrian R. Krainer, Masatoshi Hagiwara   +12 more
doaj   +3 more sources

Pathologic fracture of mandibular ramus in a patient with familial dysautonomia: A case report

Oral and Maxillofacial Surgery Cases
Familial dysautonomia is a rare disease that impairs the development of sensory nerves, afferent autonomic nerves, and afferent baroreflex pathways.
Patrick J. Nolan, David Koslovsky, Drew Roberts   +2 more
doaj   +3 more sources

Metabolic Deficits in the Retina of a Familial Dysautonomia Mouse Model [PDF]

Metabolites
Neurodegenerative retinal diseases such as glaucoma, diabetic retinopathy, Leber’s hereditary optic neuropathy (LHON), and dominant optic atrophy (DOA) are marked by progressive death of retinal ganglion cells (RGC).
Stephanann M. Costello, Anastasia Schultz, Donald Smith, Danielle Horan, Martha Chaverra, Brian Tripet, Lynn George, Brian Bothner, Frances Lefcort, Valérie Copié   +9 more
doaj   +3 more sources

Spine surgery and complication in familial dysautonomia: a case report [PDF]

Frontiers in Surgery
Familial dysautonomia (FD) is an inherited severe congenital disease and a rare syndrome associated with progressive neuronal degeneration throughout life.
M. Fava, G. Ciani, R. Ghermandi, C. Cini, B. Maccaferri, A. Gasbarrini   +5 more
doaj   +3 more sources

AAV2-mediated intravitreal delivery of exon-specific U1 snRNA rescues optic neuropathy in familial dysautonomia [PDF]

Molecular Therapy: Nucleic Acids
Familial dysautonomia (FD) is a rare autosomal recessive neurodegenerative disorder caused by a splicing mutation in the ELP1 gene. It predominantly affects the sensory and autonomic nervous systems, with progressive vision loss due to optic neuropathy ...
Anil Chekuri, Krishnakanth Kondabolu, Emily G. Kirchner, Swanand Koli, Matthew Chagnon, Drenushe Krasniqi-Vanmeter, Max E. Stern, Jessica Bolduc, Giulia Romano, Franco Pagani, Luk H. Vandenberghe, Elisabetta Morini, Susan A. Slaugenhaupt   +12 more
doaj   +3 more sources

Rescue of a familial dysautonomia mouse model by AAV9-Exon-specific U1 snRNA. [PDF]

Am J Hum Genet, 2022
Romano G, Riccardi F, Bussani E, Vodret S, Licastro D, Ragone I, Ronzitti G, Morini E, Slaugenhaupt SA, Pagani F.   +9 more
europepmc   +4 more sources

Bone biomechanical properties and tissue-scale bone quality in a genetic mouse model of familial dysautonomia. [PDF]

Osteoporos Int, 2021
Vahidi G, Flook H, Sherk V, Mergy M, Lefcort F, Heveran CM.   +5 more
europepmc   +4 more sources

A Closer Look at Familial Dysautonomia from a Social Communication Perspective: A Case Report and Review of Literature [PDF]

Psychiatry and Clinical Psychopharmacology, 2022
Familial dysautonomia (Riley–Day syndrome) is a rare but fatal autosomal recessive peripheral neuropathy caused by a point mutation in I-κ-B kinase complex-associated protein gene.
Bahadır Turan, Gülsüm Yitik Tonkaz, İbrahim Selçuk Esin, Onur Burak Dursun   +3 more
doaj   +3 more sources

Retrograde nerve growth factor signaling abnormalities and the pathogenesis of familial dysautonomia

Neural Regeneration Research, 2021
Loss of ELP1 in familial dysautonomia leads to hyperactivation of Shp1 phosphatase activity which results in TrkA dephosphorylation, failed retrograde signaling, severe physiologic dysautonomia and sensory abnormalities due to neuron death.
Soumitra Ghosh, Lin Li, Warren G Tourtellotte   +2 more
doaj   +3 more sources