Results 111 to 120 of about 9,451 (197)
Targeting DRP1 with Mdivi-1 to correct mitochondrial abnormalities in ADOA+ syndrome
JCI InsightAutosomal dominant optic atrophy plus (ADOA+) is characterized by primary optic nerve atrophy accompanied by a spectrum of degenerative neurological symptoms.
Yan Lin +9 more
doaj +1 more source
Clinical Genetics, Volume 110, Issue 3, Page 363-368, September 2026.FIG4 is essential for lysosomal homeostasis. FIG4‐related disorders present as a continuous spectrum from the juvenile lethality in Yunis‐Varon syndrome to an increased risk of amyotrophic lateral sclerosis (ALS) in adult life. FIG4‐related disorders comprise a novel group of disorders of lysosomal homeostasis and can be classified into severe ...
Pankaj Prasun, Matthew Rasberry
wiley +1 more source
Clinical Genetics, Volume 110, Issue 3, Page 336-346, September 2026.Opticus atrophy—Genetic testing with WES/WGS in 62 patients with optic atrophy provided a genetic diagnosis in 21 patients (33.9%). 42.9% of these involved non‐OPA1 genes, including WFS1, ACO2, NR2F1, UCHL1, CACNA1F, and COQ2, where the genetic diagnosis prompted additional clinical evaluation, surveillance, or therapeutic intervention.
Katrine M. Johannesen +9 more
wiley +1 more source
Journal of the Peripheral Nervous System, Volume 31, Issue 3, September 2026.ABSTRACT Background Late‐onset Tay–Sachs disease (LOTS) is a rare lysosomal disorder that contrasts with the classical infantile form by presenting with milder and heterogeneous neurological manifestations, including lower motor neuron phenotypes.
Rodrigo Siqueira Soares Frezatti +11 more
wiley +1 more source
Ecology and Evolution, Volume 16, Issue 8, August 2026.We evaluated adaptation to torpor and hibernation in the genus Dromiciops by comparing it with both torpid and non‐torpid marsupials, and investigated divergent selection signals between its two species. For the ancestral node, we identified positive selection in the genes PFKFB2, LAMP3, OTX1, and RAPSN, alongside an enrichment of pathways potentially ...
Elisa Gonzalez‐Ugalde +7 more
wiley +1 more source
SIRT Family: Biological Functions and Therapeutic Targets
MedComm, Volume 7, Issue 8, August 2026.SIRT1–SIRT7 networks from transgenic mice to human‑relevant therapeutic targets. SIRT1–SIRT7 form an isoform‑, organ‑, and disease‑specific regulatory network. Transgenic Sirt1–7 mouse models define central regulatory SIRTs (SIRT1, SIRT3, SIRT6), context‑dependent modifiers (SIRT2, SIRT4, SIRT5, SIRT7), and their key mechanisms and target organs. These
Jia‐Yi Wang +9 more
wiley +1 more source
Muscle &Nerve, Volume 74, Issue 2, Page 281-292, August 2026.ABSTRACT The flail limb syndrome is primarily a lower motor neuron disorder that initially affects proximal arm muscles (flail arm syndrome—FAS) or distal leg muscles (flail leg syndrome—FLS). Both were recognized early on (1886 for FAS and 1918 for FLS) as somewhat distinct from classic amyotrophic lateral sclerosis (ALS).
Mark B. Bromberg
wiley +1 more source
Discovery of PHB1 as a Novel Candidate Gene in Dominant Optic Atrophy
Clinical Genetics, Volume 110, Issue 2, Page 165-171, August 2026.A heterozygous PHB1 missense variant (p.Ser147Phe) segregates with autosomal dominant optic atrophy in a multi‐generation family. Structural and cellular analyses suggest altered mitochondrial dynamics, identifying PHB1 as a novel candidate gene for hereditary optic neuropathy. ABSTRACT Hereditary optic neuropathies comprise a genetically heterogeneous
Marija Volk +13 more
wiley +1 more source
Clinical Genetics, Volume 110, Issue 2, Page 203-209, August 2026.We identified a novel pathogenic AVP variant in two Danish families with autosomal dominant inheritance of symptoms of AVP deficiency. In addition, we compiled a catalogue of additionally 109 AVP variants that cause AVP deficiency and demonstrated the advantage of combining expert‐assisted curation, literature search, and online repositories to ensure ...
Jennifa Joseph +5 more
wiley +1 more source