Prph2 knock-in mice recapitulate human central areolar choroidal dystrophy retinal degeneration and exhibit aberrant synaptic remodeling and microglial activation

Prph2 disease mutations lead to structural and functional defects in the RPE

(2022) Lars Tebbe et al.   FASEB JOURNAL

Inherited Retinal Dystrophies: Role of Oxidative Stress and Inflammation in Their Physiopathology and Therapeutic Implications

(2022) Isabel Pinilla et al.   Antioxidants

Multimodal Study of PRPH2 Gene-Related Retinal Phenotypes

(2022) Giulio Antonelli et al.   Diagnostics

PRPF31 interacts with PRPH2 confirmed by co-immunoprecipitation and co-localization

(2022) Xiaoqiang Xiao et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Cellular and molecular alterations in neurons and glial cells in inherited retinal degeneration

(2022) Natalia Martínez-Gil et al.   Frontiers in Neuroanatomy

Cryo-EM structures of peripherin-2 and ROM1 suggest multiple roles in photoreceptor membrane morphogenesis

(2022) Dounia El Mazouni et al.   Science Advances

PRPH2-Associated Retinopathy: Novel Variants and Genotype–Phenotype Correlations

(2022) Lorenzo Bianco et al.   Ophthalmology Retina

Photoreceptor disc enclosure is tightly controlled by peripherin-2 oligomerization

(2021) Tylor R. Lewis et al.   JOURNAL OF NEUROSCIENCE

Phenotypic Differences in a PRPH2 Mutation in Members of the Same Family Assessed with OCT and OCTA

(2021) Henar Albertos-Arranz et al.   Diagnostics

PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease

(2021) Manon H. C. A Peeters et al.   HUMAN MUTATION

Photoreceptor Disc Enclosure Occurs in the Absence of Normal Peripherin-2/rds Oligomerization

(2020) Tylor R. Lewis et al.   Frontiers in Cellular Neuroscience

The Interplay between Peripherin 2 Complex Formation and Degenerative Retinal Diseases

(2020) Lars Tebbe et al.   Cells

ROM1 contributes to phenotypic heterogeneity in PRPH2-associated retinal disease

(2020) Daniel Strayve et al.   HUMAN MOLECULAR GENETICS

Overview of General and Discriminating Markers of Differential Microglia Phenotypes

(2020) Agnieszka M. Jurga et al.   Frontiers in Cellular Neuroscience

PRPH2-Related Retinal Diseases: Broadening the Clinical Spectrum and Describing a New Mutation

(2020) Rosa M. Coco-Martin et al.   Genes

Novel molecular mechanisms for Prph2‐associated pattern dystrophy

(2019) Dibyendu Chakraborty et al.   FASEB JOURNAL

Disrupted Blood-Retina Lysophosphatidylcholine Transport Impairs Photoreceptor Health But Not Visual Signal Transduction

(2019) Ekaterina S. Lobanova et al.   JOURNAL OF NEUROSCIENCE

Oligomerization of Prph2 and Rom1 is essential for photoreceptor outer segment formation

(2018) Rahel Zulliger et al.   HUMAN MOLECULAR GENETICS

Differential Phagocytic Properties of CD45low Microglia and CD45high Brain Mononuclear Phagocytes—Activation and Age-Related Effects

(2018) Srikant Rangaraju et al.   Frontiers in Immunology

Monocyte infiltration rather than microglia proliferation dominates the early immune response to rapid photoreceptor degeneration

(2018) Sarah J. Karlen et al.   Journal of Neuroinflammation

MHC class II expression and potential antigen-presenting cells in the retina during experimental autoimmune uveitis

(2017) Deborah A. Lipski et al.   Journal of Neuroinflammation

A subpopulation of activated retinal macrophages selectively migrated to regions of cone photoreceptor stress, but had limited effect on cone death in a mouse model for type 2 Leber congenital amaurosis

(2017) Peter H. Tang et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

CD169 is a marker for highly pathogenic phagocytes in multiple sclerosis

(2017) Jeroen FJ Bogie et al.   Multiple Sclerosis Journal

Peripherin-2 and Rom-1 have opposing effects on rod outer segment targeting of retinitis pigmentosa-linked peripherin-2 mutants

(2017) Sybille Böhm et al.   Scientific Reports

CD169 is a marker for highly pathogenic phagocytes in multiple sclerosis

(2017) Jeroen FJ Bogie et al.   Multiple Sclerosis Journal

Evidence Supporting an Association Between Expression of Major Histocompatibility Complex II by Microglia and Optic Nerve Degeneration During Experimental Glaucoma

(2016) Glyn Chidlow et al.   JOURNAL OF GLAUCOMA

Siglec functions of microglia

(2014) B. Linnartz-Gerlach et al.   GLYCOBIOLOGY

The Y141C knockin mutation in RDS leads to complex phenotypes in the mouse

(2014) Michael W. Stuck et al.   HUMAN MOLECULAR GENETICS

Cellular responses following retinal injuries and therapeutic approaches for neurodegenerative diseases

(2014) Nicolás Cuenca et al.   PROGRESS IN RETINAL AND EYE RESEARCH

A Single Valine Residue Plays an Essential Role in Peripherin/rds Targeting to Photoreceptor Outer Segments

(2013) Raquel Y. Salinas et al.   PLoS One

NIH Image to ImageJ: 25 years of image analysis

(2012) Caroline A Schneider et al.   NATURE METHODS

Dendritic cells are early responders to retinal injury

(2010) Ute Lehmann et al.   NEUROBIOLOGY OF DISEASE

Central Areolar Choroidal Dystrophy

(2009) Camiel J.F. Boon et al.   OPHTHALMOLOGY