113 citations
,
June 2010 in “Biological Chemistry” Cathepsin L deficiency causes large, abnormal cell structures and health issues in mice.
5 citations
,
March 2017 in “Molecular biology of the cell” Different parts of cells interact at specific areas to control cell functions like energy production and fat storage.
4 citations
,
February 2022 in “International Journal of Molecular Sciences” Myotonic Dystrophy may age cells faster, and drugs that target aging could be potential treatments.
3 citations
,
January 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” Skin cells from people with Epidermolysis Bullosa Simplex have abnormally placed and less active mitochondria.
April 2023 in “Journal of Investigative Dermatology” Defective T cell metabolism can cause early skin aging and poor hair follicle stem cell function.
Defective protein folding due to a mutation is key in ANE syndrome.
46 citations
,
June 2015 in “American Journal Of Pathology” Diabetes causes lasting cell dysfunctions, leading to serious complications even after blood sugar is controlled.
March 2024 in “International journal of molecular sciences” Mitochondrial dysfunction is linked to various skin conditions and could be a target for treatments.
47 citations
,
September 2012 in “Human molecular genetics online/Human molecular genetics” Folliculin deficiency causes problems with cell division and positioning due to disrupted RhoA signaling and interaction with p0071.
May 2024 in “British journal of dermatology/British journal of dermatology, Supplement” CYLD deficiency in skin tumors disrupts hair follicle cell processes and protein secretion.
May 2022 in “Experimental dermatology” Trichothiodystrophy hair is structurally abnormal with protein and organization issues.
Defective nuclear transport may cause gene expression changes in Progeria.
4 citations
,
August 2018 in “Journal of cellular biochemistry” Acid inside cells speeds up aging and turns on aging signs in mice.
1 citations
,
March 2018 in “F1000Research” Diabetic neuropathy in mice is linked to poor mitochondria function and lower brain hormone production.
May 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” Age-related hair loss is linked to the decline and dysfunction of hair follicle stem cells.
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
September 2019 in “Journal of Investigative Dermatology” Specialized ribosomes affect aging in human skin cells.
June 2018 in “British Journal of Dermatology” Hair cells lose their nucleus and mitochondria in a specific order as they fill with keratin, which could help develop treatments for hair issues.
198 citations
,
June 2013 in “Molecular psychiatry” Schizophrenia patients' stem cells show abnormal neuron development and mitochondrial issues.
98 citations
,
December 2015 in “The Journal of Cell Biology” Keratin is crucial for skin barrier formation and affects mitochondrial function.
April 2024 in “BMB Reports” Lack of Cisd2 disrupts calcium balance in cells, leading to poorly functioning neutrophils.
November 2022 in “Journal of Investigative Dermatology” Aging in one type of stem cell can cause aging-like changes in various organs.
6 citations
,
March 2016 in “PLoS ONE” The patient's hair was thinner and had fewer lipids due to a genetic mutation.
May 2024 in “Trends in endocrinology and metabolism” Iron is essential for many body functions, and its deficiency causes serious health problems.
53 citations
,
September 2004 in “American journal of medical genetics. Part C, Seminars in medical genetics” Mutations in keratin genes cause cell fragility and various skin disorders.
July 2026 in “Pharmaceuticals” Aging and chronic diseases impair muscle repair, but integrated therapies like exercise and gene editing may help.
November 2024 in “Communities in ADDI (University of the Basque Country)” Antisense oligonucleotides show promise for treating Myotonic Dystrophy type I.
8 citations
,
July 2023 in “Cell stem cell” 2 citations
,
September 2004 in “Experimental Dermatology” Keratinocyte adhesion problems can cause skin and hair disorders.
28 citations
,
September 2013 in “Biogerontology”