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Natural history of alkaptonuria.
Although nitisinone can reduce HGA production in humans with homogentisate 1,2-dioxygenase deficiency, the long-term safety and efficacy of this treatment require further evaluation. Expand
Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor.
The results suggest that AP-3 functions in protein sorting to lysosomes and provide an example of a human disease in which altered trafficking of integral membrane proteins is due to mutations in a component of the sorting machinery. Expand
Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics.
This review discusses the main components of LRO biogenesis, and summarizes the function, composition, and resident cell types of the major LROs. Expand
Platelet Polyphosphates Are Proinflammatory and Procoagulant Mediators In Vivo
The data identify polyP as a new class of mediator having fundamental roles in platelet-driven proinflammatory and procoagulant disorders, including Hermansky-Pudlak Syndrome patients, who lack platelet polyP. Expand
Slc7a11 gene controls production of pheomelanin pigment and proliferation of cultured cells.
It is demonstrated that the subtle gray (sut) mouse pigmentation mutant arose by means of a mutation in the Slc7a11 gene, encoding the plasma membrane cystine/glutamate exchanger xCT, which is critical for normal proliferation, glutathione production, and protection from oxidative stress in cultured cells. Expand
A 3-year randomized therapeutic trial of nitisinone in alkaptonuria.
This trial illustrates the remarkable tolerability of nitisinone, its biochemical efficacy, and the need to investigate its use in younger individuals prior to development of debilitating arthritis. Expand
Nephropathic cystinosis: late complications of a multisystemic disease
The classic presentation of nephropathic cystinosis and the natural history, diagnosis, and treatment of the disorder’s systemic involvement are reviewed and the role of oral cysteamine therapy in preventing the late complications of cystine-depleting therapy is emphasized. Expand
Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome).
The 16-bp duplication in exon 15 of HPS, which was found only in Puerto Rican patients, is associated with a broad range of pigmentation and an increased risk of restrictive lung disease in adults. Expand
Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations.
BACKGROUND Five children from two consanguineous families presented with epilepsy beginning in infancy and severe ataxia, moderate sensorineural deafness, and a renal salt-losing tubulopathy withExpand
Clinical, molecular, and cell biological aspects of Chediak-Higashi syndrome.
Because the beige mouse demonstrates many characteristics similar to those of human CHS patients, including dilution of coat color, recurrent infections, and the presence of giant granules, it is considered the animal homologue of CHS. Expand