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Establishment and Biological Characteristics Analysis of a Hybrid Culter Lineage from <i>Megalobrama amblycephala</i> (♀) and <i>Culter alburnus</i> (♂). [PDF]

Animals (Basel)
Huang J, Yang Y, Huang J, Huang X, Zhu J, Xiong Y, Qin L, Liang H, Wen M, Wang Y, Huang X, Hu F, Wang S, Wu C, Liu S.   +14 more
europepmc   +1 more source

Optical Coherence Tomography Split-Spectrum Amplitude-Decorrelation Optoretinography Detects Early Central Cone Photoreceptor Dysfunction in Retinal Dystrophies. [PDF]

Transl Vis Sci Technol
Wongchaisuwat N, Amato A, Yang P, Everett L, Pennesi ME, Huang D, Chen S.   +6 more
europepmc   +1 more source

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Mfsd8 localizes to endocytic compartments and influences the secretion of Cln5 and cathepsin D in Dictyostelium

Cellular Signalling, 2020
The neuronal ceroid lipofuscinoses (NCLs) are a family of neurodegenerative diseases that affect people of all ages and ethnicities, yet many of the associated genes/proteins are not well characterized. Mutations in MFSD8 (major facilitator superfamily domain-containing 8) cause an infantile form of NCL referred to as CLN7 disease.
Robert Huber, Sabateeshan Mathavarajah
exaly   +3 more sources

Non-targeted Metabolomics Reveals the Potential Role of MFSD8 in Metabolism in Human Endothelial Cells

Molecular Biotechnology
The major facilitator superfamily domain containing 8 (MFSD8) belongs to an orphan transporter protein expressed in a wide range of tissues. Nevertheless, the specific role of MFSD8 in human health and disease remains unknown. This study aimed to evaluate the role of MFSD8 protein on metabolic function using untargeted metabolomics analysis in human ...
Liang Tang, Jianming Li, Qin Xiang
exaly   +3 more sources

A novel ocular phenotype associated with pathogenic variants in MFSD8 leading to macular dystrophy

Ophthalmic Genetics, 2023
The major facilitator superfamily domain-containing protein 8 (MFSD8) pathogenic variants are classically associated with autosomal recessive neuronal ceroid lipofuscinosis-7. Case reports have recently demonstrated an association of MFSD8 variants causing autosomal recessive macular dystrophy with central cone involvement without neurologic sequelae ...
Madeline Beckman, Leanne Clevenger, Meghan J. DeBenedictis, Alex Yuan, Sumit Sharma   +4 more
openaire   +2 more sources

MFSD8 gene mutations; evidence for phenotypic heterogeneity

Ophthalmic Genetics, 2019
Cone-rod dystrophies are a group of genetically and phenotypically heterogeneous inherited degenerative retinal diseases primarily affecting macular and cone system function. MFSD8 loss-of-function variants are mainly related to the variant late-infantile neuronal ceroid lipofuscinoses which present with progressive motor and mental regression in ...
Davood, Zare-Abdollahi, Ata, Bushehri, Afagh, Alavi, Alireza, Dehghani, Mohammadreza, Mousavi-Mirkala, Jalil, Effati, Seyed Ali Mohammad, Miratashi, Mohammad, Dehani, Payman, Jamali, Hamid Reza, Khorram Khorshid   +9 more
openaire   +2 more sources

Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging

neurogenetics, 2009
Neuronal ceroid lipofuscinoses (NCLs) are a group of lysosomal neurodegenerative disorders that have in common the characteristic accumulation of abnormal storage material. Old clinical classification based on age of onset is now being revisited with the quickly accumulating knowledge of the various genetic defects that underlie this group of ...
M A, Aldahmesh, Z N, Al-Hassnan, M, Aldosari, F S, Alkuraya   +3 more
openaire   +2 more sources

A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis

neurogenetics, 2008
Neuronal ceroid lipofuscinoses (NCL) are lysosomal storage disorders and constitute the most common group of progressive neurodegenerative diseases in childhood. Most NCLs are inherited in a recessive manner and are clinically characterised by a variable age at onset, epileptic seizures, psychomotor decline, visual impairment and premature death.
E, Stogmann, S, El Tawil, J, Wagenstaller, A, Gaber, S, Edris, A, Abdelhady, E, Assem-Hilger, F, Leutmezer, S, Bonelli, C, Baumgartner, F, Zimprich, T M, Strom, A, Zimprich   +12 more
openaire   +2 more sources