Research & Literature

A microglial cell model for acyl-CoA oxidase 1 deficiency.

Raas Q, Saih FE, Gondcaille C, et al.

Biochimica et biophysica acta. Molecular and cell biology of lipids 2019; (1864(4)):567-576 doi:10.1016/j.bbalip.2018.10.005.

Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms.

Chung HL, Wangler MF, Marcogliese PC, et al.

Neuron 2020; (106(4)):589-606.e6 doi:10.1016/j.neuron.2020.02.021.

Novel ACOX1 mutations in two siblings with peroxisomal acyl-CoA oxidase deficiency.

Morita A, Enokizono T, Ohto T, et al.

Brain & development 2021; (43(3)):475-481 doi:10.1016/j.braindev.2020.10.011.

Case Report: Postacute Rehabilitation of Guillain-Barré Syndrome and Cerebral Vasculitis-Like Pattern Accompanied by SARS-CoV-2 Infection.

Colonna S, Sciumé L, Giarda F, et al.

Frontiers in neurology 2020; (11()):602554 doi:10.3389/fneur.2020.602554.

Health Promotion and Wellness in Neurologic Physical Therapy: Strategies to Advance Practice.

Rafferty MR, Held Bradford EC, Fritz S, et al.

Journal of neurologic physical therapy : JNPT 2022; (46(2)):103-117 doi:10.1097/NPT.0000000000000376.

Child Neurology: Neurodegenerative Encephalomyelopathy Associated With ACOX1 Gain-of-Function Variation Partially Responsive to Immunotherapy.

Jafarpour S, Khoshnood M, Santoro JD

Neurology 2022; (99(8)):341-346 doi:10.1212/WNL.0000000000200935.

A de novo heterozygous variant in ACOX1 gene cause Mitchell syndrome: the first case in China and literature review.

Shen M, Chen Q, Gao Y, et al.

BMC medical genomics 2023; (16(1)):156 doi:10.1186/s12920-023-01577-w.

ACOX1 Gain-of-Function Variant in Two German Pediatric Patients, in One Case Mimicking Autoimmune Inflammatory Disease.

Thiels C, Lücke T, Rothoeft T, et al.

Neuropediatrics 2024; (55(2)):140-145 doi:10.1055/s-0043-1776013.

Rehabilitation for Mitochondrial Membrane Protein-Related Neurodegeneration: A Case Study.

Özçelep ÖF, Turhan A, Fi Dan S, Kandemir S

Cureus 2023; (15(12)):e50540 doi:10.7759/cureus.50540.

Generation and characterization of a zebrafish gain-of-function ACOX1 Mitchell disease model.

Raas Q, Wood A, Stevenson TJ, et al.

Frontiers in pediatrics 2024; (12()):1326886 doi:10.3389/fped.2024.1326886.

Dermatopathological features and successful treatment with topical antioxidant for ichthyosiform lesions in Mitchell syndrome caused by an ACOX1 variant.

Gong Z, Yang S, Ling S, et al.

The Journal of dermatology 2025; (52(3)):445-451 doi:10.1111/1346-8138.17346.

ACOX1 gain-of-function variation in a 10-years-old patient responsive to immunomodulating therapy.

Filippi C, Brunetti S, Plumari M, et al.

American journal of medical genetics. Part A 2024; (194(11)):e63796 doi:10.1002/ajmg.a.63796.

Findings from the individualized management of a patient with Acyl-CoA Oxidase-1 (ACOX1) deficiency: A bedside-to-bench-to-bedside strategy.

Moreau C, Paquot A, Ares GS, et al.

Molecular genetics and metabolism 2024; (143(3)):108581 doi:10.1016/j.ymgme.2024.108581.

Primary adrenal insufficiency caused by pseudo-neonatal adrenoleukodystrophy associated with biallelic ACOX1 mutations.

Helvacioglu D, Canbaz AT, Tekmenuray-Unal A, et al.

European journal of endocrinology 2025; (192(5)):K38-K43 doi:10.1093/ejendo/lvaf094.

ACOX1 Gain-of-Function and De Novo ROBO1 Variant in ACOX1-sEDD.

Molina-Espinosa J, Pérez-López I, González-Villén R, et al.

Pediatric dermatology 2026; doi:10.1111/pde.70299.

Central precocious puberty as the initial manifestation of multisystem involvement caused by de novo heterozygous KMT2B mutation and STS hemizygous deletion: a case report.

Feng Y, Yang L, Xu QB, Cao LF

Frontiers in endocrinology 2026; (17()):1869758 doi:10.3389/fendo.2026.1869758.